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Littérature scientifique sur le sujet « Association copy »

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Publié le 26 juillet 2024

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Articles de revues sur le sujet "Association copy"

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Teare, Brian. « from Association Copy ». New England Review 43, no 3 (2022) : 107–13. http://dx.doi.org/10.1353/ner.2022.0089.

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Brezina, Stefanie, Moritz Feigl, Tanja Gumpenberger, Ricarda Staudinger, Andreas Baierl et Andrea Gsur. « Genome-wide association study of germline copy number variations reveals an association with prostate cancer aggressiveness ». Mutagenesis 35, no 3 (7 avril 2020) : 283–90. http://dx.doi.org/10.1093/mutage/geaa010.

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Abstract Prostate cancer is a major health burden, being the second most commonly diagnosed malignancy in men worldwide. Overtreatment represents a major problem in prostate cancer therapy, leading to significant long-term quality-of-life effects for patients and a broad socio-ecological burden. Biomarkers that could facilitate risk stratification of prostate cancer aggressiveness at the time of diagnosis may help to guide clinical treatment decisions and reduce overtreatment. Previous research on genetic variations in prostate cancer has shown that germline copy number variations as well as somatic copy number alterations are commonly present in cancer patients, altering a greater portion of the cancer genome than any other type of genetic variation. To investigate the effect of germline copy number variations on cancer aggressiveness we have compared genome-wide screening data from genomic DNA isolated from the blood of 120 patients with aggressive prostate cancer, 231 patients with non-aggressive prostate cancer and 87 controls with benign prostatic hyperplasia from the Prostate Cancer Study of Austria biobank using the Affymetrix SNP 6.0 array. We could show that patients with an aggressive form of prostate cancer had a higher frequency of copy number variations [mean count of copy number segments (CNS) = 12.9, median count of CNS = 9] compared to patients with non-aggressive prostate cancer (mean count of CNS = 10.4, median count of CNS = 8) or control patients diagnosed with benign prostatic hyperplasia (mean count of CNS = 9.3, median count of CNS = 8). In general, we observed that copy number gain is a rarer event, compared to copy number loss within all three patient groups. Furthermore, we could show a significant effect of copy number losses located on chromosomes 8, 9 and 10 on prostate cancer aggressiveness (P = 0.040, P = 0.037 and P = 0.005, respectively). Applying a cross-validation analysis yielded an area under the curve of 0.63. Our study reports promising findings suggesting that copy number losses might play an important role in the establishment of novel biomarkers to predict prostate cancer aggressiveness at the time of diagnosis. Such markers could be used to facilitate risk stratification to reduce overtreatment of prostate cancer patients.
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Ai, Zhen, Ming Li, Wenting Liu, Jia-Nee Foo, Omniah Mansouri, Peiran Yin, Qian Zhou et al. « Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction ». Science Translational Medicine 8, no 345 (29 juin 2016) : 345ra88. http://dx.doi.org/10.1126/scitranslmed.aaf2106.

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Although a major source of genetic variation, copy number variations (CNVs) and their involvement in disease development have not been well studied. Immunoglobulin A nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. We performed association analysis of the DEFA1A3 CNV locus in two independent IgAN cohorts of southern Chinese Han (total of 1189 cases and 1187 controls). We discovered three independent copy number associations within the locus: DEFA1A3 [P = 3.99 × 10−9; odds ratio (OR), 0.88], DEFA3 (P = 6.55 × 10−5; OR, 0.82), and a noncoding deletion variant (211bp) (P = 3.50 × 10−16; OR, 0.75) (OR per copy, fixed-effects meta-analysis). While showing strong association with an increased risk for IgAN (P = 9.56 × 10−20), low total copy numbers of the three variants also showed significant association with renal dysfunction in patients with IgAN (P = 0.03; hazards ratio, 3.69; after controlling for the effects of known prognostic factors) and also with increased serum IgA1 (P = 0.02) and galactose-deficient IgA1 (P = 0.03). For replication, we confirmed the associations of DEFA1A3 (P = 4.42 × 10−4; OR, 0.82) and DEFA3 copy numbers (P = 4.30 × 10−3; OR, 0.74) with IgAN in a Caucasian cohort (531 cases and 198 controls) and found the 211bp variant to be much rarer in Caucasians. We also observed an association of the 211bp copy number with membranous nephropathy (P = 1.11 × 10−7; OR, 0.74; in 493 Chinese cases and 500 matched controls), but not with diabetic kidney disease (in 806 Chinese cases and 786 matched controls). By explaining 4.96% of disease risk and influencing renal dysfunction in patients with IgAN, the DEFA1A3 CNV locus may be a potential therapeutic target for developing treatments for this disease.
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ZHANG, XueGong, et XueYa ZHOU. « Copy number variation based genetic association studies ». Chinese Science Bulletin 56, no 6 (1 mars 2011) : 370–82. http://dx.doi.org/10.1360/972010-1759.

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Nygaard, Sune Boris, Maria Unni Rømer, Ib Jarle Christensen, Signe Lykke Nielsen, David Hersi Smith, Kirsten Vang Nielsen, Sven Müller, Ben Vainer, Hans J. Nielsen et Nils Brünner. « TOP1 gene copy number in stage III colorectal cancer (CRC) samples : Association to prognosis. » Journal of Clinical Oncology 30, no 4_suppl (1 février 2012) : 475. http://dx.doi.org/10.1200/jco.2012.30.4_suppl.475.

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475 Background: TOP1 inhibitor treatment is frequently being used in combination therapy of metastatic CRC. This study aims to reveal whether TOP1 gene copy number associates with patient prognosis, since such a relationship may have significant implications for future studies aiming at validating the predictive value of TOP1 gene copy number. Methods: The study included TOP1 and CEN-20 FISH analyses (DAKO A/S Denmark) on FFPE tissue sections from 154 stage III CRC patients who did not receive adjuvant chemotherapy. TOP1 gene copy number, CEN-20 copy number and the TOP1/CEN-20 ratios were analyzed and correlated to overall survival (OS), to time to recurrence (TTR) of patients with CRC and to local recurrence (LR) in patients with rectal cancer (RC). Results: TOP1 copy number counts and the TOP1/CEN-20 ratios, age, gender and primary tumor location were separately added into a multivariate analysis as continuous variables. For OS and LR, TOP1 copy number was significant and the ratio was borderline significant with higher copy number associated with longer OS or longer time to LR. When the patients were dichotomized using the TOP1 median copy number, we found that patients with high TOP1 copy number in their tumor cells had a significant longer OS (HR: 0.68; 95% CI: 0.47-0.98; p = 0.04) compared to patients with low TOP1 copy number. Using the median TOP1/CEN-20 ratio to dichotomize, no significant differences were observed between patients with levels above or below the median ratio number for OS (HR: 0.76; 95% CI: 0.53-1.10; p = 0.14). TOP1 copy number divided the RC patients into two groups with a trend towards a significant difference in time to LR (HR: 0.56; 95% CI: 0.27-1.16; p = 0.11) with higher copy number. If the median ratio was used, a significant association with longer time to LR (HR: 0.43; 95% CI: 0.20-0.92; p = 0.03) was found. No significant associations between TOP1 copy number or ratio and TTR were observed. Conclusions: Increased TOP1 copy number is associated with longer OS in CRC patients and fewer LR in RC patients. Thus, future studies analyzing the association between TOP1 copy number and response to therapy in CRC patients should be planned in such a way that a prognostic and a predictive value of TOP1 can be separated.
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Valla, Marit, Signe Opdahl, Borgny Ytterhus et Anna Mary Bofin. « DTX3 copy number increase in breast cancer : a study of associations to molecular subtype, proliferation and prognosis ». Breast Cancer Research and Treatment 187, no 1 (22 février 2021) : 57–67. http://dx.doi.org/10.1007/s10549-021-06138-2.

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Abstract Purpose The degree of cell proliferation is important for subclassification of breast cancers into prognostic and therapeutic groups. DTX3 has been identified as a driver of proliferation in luminal breast cancer. In this study, we describe DTX3 copy number in breast cancer primary tumours and corresponding axillary lymph node metastases, and studied associations with molecular subtype, proliferation and prognosis. Methods Using fluorescence in situ hybridization, we assessed DTX3 and chromosome 12 centromere (CEP12) copy number in 542 primary breast cancers and 117 lymph node metastases, from a well-described cohort of Norwegian breast cancer patients. Proliferation was expressed as mitotic counts and Ki67 score. Associations between DTX3 copy number and molecular subtype and proliferation were assessed using Pearson’s χ2 test. We studied the effect of copy number increase on prognosis estimating cumulative incidence of breast cancer death and hazard ratios. Results Mean DTX3 copy number ≥ 4 was found in 23 tumours (4%), and mean ≥ 5 in 9 tumours (1.7%). Copy number increase was found within all molecular subtypes except the 5 negative phenotype and the Luminal B (HER2 +) subtype. DTX3 copy number increase was not accompanied by an increase in CEP12. Point estimates showed that there were associations between DTX3 copy number increase and high proliferation and poor prognosis; however, precision depended on copy number cut-off. Conclusions DTX3 copy number increase was present in a small proportion of breast cancer cases. There was an association between copy number increase and high tumour cell proliferation and poor prognosis.
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Whitman, Mary C., Sherin Shaaban, Sarah MacKinnon, Wai-Man Chan, David A. Mackey, David G. Hunter et Elizabeth C. Engle. « Genetic associations in esotropia : genome-wide association study and copy number variation ». Journal of American Association for Pediatric Ophthalmology and Strabismus 23, no 4 (août 2019) : e63. http://dx.doi.org/10.1016/j.jaapos.2019.08.231.

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Jiang, Rui, Jie Cheng, Xiu-Kai Cao, Yi-Lei Ma, Buren Chaogetu, Yong-Zhen Huang, Xian-Yong Lan, Chu-Zhao Lei, Lin-Yong Hu et Hong Chen. « Copy Number Variation of the SHE Gene in Sheep and Its Association with Economic Traits ». Animals 9, no 8 (6 août 2019) : 531. http://dx.doi.org/10.3390/ani9080531.

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Copy number variation (CNV) caused by gene rearrangement is an important part of genomic structural variation. We found that the copy number variation region of the Src Homology 2 Domain Containing E (SHE) gene correlates with a quantitative trait locus of sheep related to milk fat percentage and bone density. The aim of our study was to detect the copy number variation of the SHE gene in four sheep breeds and to conduct a correlation analysis with economic traits, hoping to provide some reference for sheep breeding. In this study, we examined 750 sheep from four Chinese breeds: Chaka sheep (CKS), Hu sheep (HS), Large Tail Han sheep (LTHS) and Small Tail Han sheep (STHS). We used qPCR to evaluate the copy number of the SHE gene, and then used general linear models to analyze the associations between CNV and economic traits. The results showed that there were more individuals with SHE copy number loss in CKS and HS than in STHS and LTHS individuals. Association analyses showed that gain and normal copy number types were correlated to body length, circumference of cannon bone, heart girth, chest width and high at the cross in CKS, HS and STHS (p < 0.05), but this association was not observed for LTHS. Chi-square values (χ2) found prominent differences in CNV distribution among the studied breeds. Overall, the CNV of the SHE gene may be an important consideration for sheep molecular breeding.
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León-Mimila, Paola, Hugo Villamil-Ramírez, Blanca López-Contreras, Sofía Morán-Ramos, Luis Macias-Kauffer, Víctor Acuña-Alonzo, Blanca del Río-Navarro et al. « Low Salivary Amylase Gene (AMY1) Copy Number Is Associated with Obesity and Gut Prevotella Abundance in Mexican Children and Adults ». Nutrients 10, no 11 (1 novembre 2018) : 1607. http://dx.doi.org/10.3390/nu10111607.

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Genome-wide association studies (GWAS) have identified copy number variants (CNVs) associated with obesity in chromosomal regions 1p31.1, 10q11.22, 11q11, 16p12.3, and recently 1p21.1, which contains the salivary amylase gene (AMY1). Recent evidence suggests this enzyme may influence gut microbiota composition through carbohydrate (mainly starch) degradation. The role of these CNVs in obesity has been scarcely explored in the Latino population, and thus the aim of our study was to evaluate the association of 1p31.1, 10q11.22, 11q11, 16p12.3 and 1p21.1 CNVs with obesity in 921 Mexican children, to replicate significant associations in 920 Mexican adults, and to analyze the association of AMY1 copy number with gut microbiota in 75 children and 45 adults. Of the five CNVs analyzed, 1q11 CNV was significantly associated with obesity in children, but not in adults. Only AMY1 CNV was significantly associated with obesity in both age groups. Moreover, gut microbiota analyses revealed a positive correlation between AMY1 copy number and Prevotella abundance. This genus has enzymes and gene clusters essential for complex polysaccharide degradation and utilization. To our knowledge, this is the first study to analyze the association of these five CNVs in the Mexican population and to report a correlation between AMY1 CN and gut microbiota in humans.
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Venkatapoorna, Chandra, Priscilla Ayine, Emily Parra, Taylor Koenigs, Megan Phillips, Jeganathan Babu, Maninder Sandey et Thangiah Geetha. « Association of Salivary Amylase (AMY1) Gene Copy Number with Obesity in Alabama Elementary School Children ». Nutrients 11, no 6 (19 juin 2019) : 1379. http://dx.doi.org/10.3390/nu11061379.

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Salivary amylase (AMY1) is the most abundant enzyme in human saliva, responsible for the hydrolysis of α-1,4 glycosidic linkages that aids in the digestion of starch. Recently studies have shown that the copy number of AMY1 is associated with obesity; however, the data varies with location. One-third of children are overweight/obese in Alabama. In this study, we aim to determine the relationship between the copy number of AMY1 gene and obesity measurements in children from Alabama. One hundred twenty-seven children aged between 6 to 10 years participated in this study. Anthropometric measurements were measured using WHO recommendations. Genomic DNA was extracted from saliva, and the copy number of the AMY1 gene was estimated by digital PCR. The association between AMY1 copy number and obesity measurements was analyzed by linear regression. The mean AMY1 copy number significantly decreased in overweight/obese (6.21 ± 1.48) compared to normal weight (7.97 ± 2.35) children. AMY1 copy number inversely associated with the obesity measurements. African Americans had a stronger association between low AMY1 copy number and obesity compared to white/European Americans. Our findings suggest that overweight/obese children have a low AMY1 copy number and the effect is more prominent in African Americans.
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Thèses sur le sujet "Association copy"

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Li, Yinglei. « Genetic Association Testing of Copy Number Variation ». UKnowledge, 2014. http://uknowledge.uky.edu/statistics_etds/8.

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Copy-number variation (CNV) has been implicated in many complex diseases. It is of great interest to detect and locate such regions through genetic association testings. However, the association testings are complicated by the fact that CNVs usually span multiple markers and thus such markers are correlated to each other. To overcome the difficulty, it is desirable to pool information across the markers. In this thesis, we propose a kernel-based method for aggregation of marker-level tests, in which first we obtain a bunch of p-values through association tests for every marker and then the association test involving CNV is based on the statistic of p-values combinations. In addition, we explore several aspects of its implementation. Since p-values among markers are correlated, it is complicated to obtain the null distribution of test statistics for kernel-base aggregation of marker-level tests. To solve the problem, we develop two proper methods that are both demonstrated to preserve the family-wise error rate of the test procedure. They are permutation based and correlation base approaches. Many implementation aspects of kernel-based method are compared through the empirical power studies in a number of simulations constructed from real data involving a pharmacogenomic study of gemcitabine. In addition, more performance comparisons are shown between permutation-based and correlation-based approach. We also apply those two approaches to the real data. The main contribution of the dissertation is the development of marker-level association testing, a comparable and powerful approach to detect phenotype-associated CNVs. Furthermore, the approach is extended to high dimension setting with high efficiency.
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Jiang, Wei. « Killer-cell immunoglobulin-like receptor gene copy number, haplotypes and disease association ». Thesis, University of Cambridge, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.607691.

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Chen, Wanting. « Copy Number Variants in the human genome and their association with quantitative traits ». Thesis, University of Edinburgh, 2011. http://hdl.handle.net/1842/5957.

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Copy number Variants (CNVs), which comprise deletions, insertions and inversions of genomic sequence, are a main form of genetic variation between individual genomes. CNVs are commonly present in the genomes of human and other species. However, they have not been extensively characterized as their ascertainment is challenging. I reviewed current CNV studies and CNV discovery methods, especially the algorithms which infer CNVs from whole genome Single Nucleotide Polymorphism (SNP) arrays and compared the performance of three analytical tools in order to identify the best method of CNV identification. Then I applied this method to identify CNV events in three European population isolates—the island of Vis in Croatia, the islands of Orkney in Scotland and villages in the South Tyrol in Italy - from Illumina genome-wide array data with more than 300,000 SNPs. I analyzed and compared CNV features across these three populations, including CNV frequencies, genome distribution, gene content, segmental duplication overlap and GC content. With the pedigree information for each population, I investigated the inheritance and segregation of CNVs in families. I also looked at association between CNVs and quantitative traits measured in the study samples. CNVs were widely found in study samples and reference genomes. Discrepancies were found between sets of CNVs called by different analytical tools. I detected 4016 CNVs in 1964 individuals, out of a total of 2789 participants from the three population isolates, which clustered into 743 copy number variable regions (CNVRs). Features of these CVNRs, including frequency and distribution, were compared and were shown to differ significantly between the Orcadian, South Tyrolean and Dalmatian population samples. Consistent with the inference that this indicated population-specific CNVR identity and origin, it was also demonstrated that CNV variation within each population can be used to measure genetic relatedness. Finally, I discovered that individuals who had extreme values of some metabolic traits possessed rare CNVs which overlapped with known genes more often than in individuals with moderate trait values.
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Giannoulatou, Eleni. « Single nucleotide polymorphism and copy number variant genotyping for genome wide association studies ». Thesis, University of Oxford, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.543550.

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De, Tisham. « Statistical approaches for copy number variation detection and association with complex human phenotypes ». Thesis, Imperial College London, 2014. http://hdl.handle.net/10044/1/45494.

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Copy number variants (CNVs) play an important role in the disease pathogenesis, including epilepsy, diabetes and many others. CNVs, are also known to affect cellular phenotypes through several phenomenon such as gene dosage. Next generation technologies for sequencing (DNA and RNA) and metabolite profiling (metabolomics) has led to the systematic discovery and evaluation of various genomic variants and their relationship to multiple phenotypes. Such approaches often involve application of several statistical and machine learning methods for unravelling new relationships between genomic variants and phenotypes i.e. disease outcomes or quantitative traits characterized at the molecular level. This thesis explores and develops several statistical methods for CNV detection and association with complex human phenotypes, in particular for epilepsy drug-response, epilepsy susceptibility, metabolomics and gene expression. In more detail, chapter 3, describes a genome wide CNV association analysis for two phenotypes including epilepsy susceptibility and epilepsy drug response. I have identified several important candidate genes for these two phenotypes, including the top most associated genes, SLC9A1 (p-value=6.69E-15) for epilepsy susceptibility and WWOX (p-value=1.93E-3) for epilepsy drug response. These associations were replicated in a separate Australian cohort and were further validated in lab and in-silico, leading to some positive and negative confirmation. In chapter 4, I present CNV association with metabolomic data in the exonic regions of the TSPAN8 gene. A strong association signal was detected in the 6th exon and 7th exon of the TSPAN8 gene, where a large proportion of metabonomic lipid phenotypes were found to be associated with univariate (P-value=7.64E-4) and multivariate (P-value=1.33E-6) approaches. These CNVs were also found to be nominally associated with type 2 diabetes (P-value=3.32e-7). In addition, I also carried out advanced multivariate based association analysis to corroborate these results and further reported sequencing based validation results for TSPAN8 exonic CNVs in different human populations from the 1000 genomes project. In chapter 5, I report a genome wide CNV association analysis with gene expression in ten different regions of the human brain. I identified a novel CNV near the DRD5 gene which was found to be strongly associated with gene expression. Further, I have reported on-going efforts to replicate and validate this finding. Each of these different phenotype categories analysed posed its own unique challenges and required specific approaches for analysis and interpretation.
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Wong, Hoi-man Emily, et 黃凱敏. « Genome-wide association analyses on complex diseases : from single-nucleotide polymorphism to copy numbervariation ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hub.hku.hk/bib/B50534099.

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Complex diseases, unlike Mendialian diseases, are often characterized by genetic heterogeneity and multifactorial inheritance, involving defects in genes from the same or multiple alternative pathways. Many congenital diseases and psychiatric disorders are complex diseases, and incur heavy health care burden on the society. With the advancement in high-throughput genotyping technologies and the availability of the human single nucleotide polymorphism (SNP) catalogue, genome-wide association study (GWAS) has been widely used to investigate the genetic component of complex diseases. Copy number variations (CNV) can also be identified using the data from the same SNP array. Aiming to identify more disease susceptibility loci for complex diseases, separate GWAS using a case-control design were conducted on anorectal malformations (ARMs) and schizophrenia. ARMs are rare congenital diseases with heterogeneous phenotypes which could probably be explained by the genetic heterogeneity among patients, while schizophrenia is a common psychiatric disorder that is well known for its multigenic inheritance. The GWAS studies on ARM and schizophrenia included 4,369 (patients: N=363; controls: N=4,006) and 1,231 Han Chinese (patients: N=381; controls: N=850) respectively. The two studies were mainly focused on investigating the contribution of rare CNVs to the diseases, involving analyses on global CNV burden, rare CNV association, protein-protein interaction (PPI) network, pathway and chromosomal aberrations. The associations of SNPs with ARMs were also examined. Apart from elucidating the genetic components in these two diseases, a systematic analysis on four CNV detection programs (CNV partition, PennCNV, QuantiSNP and iPattern) was also undertaken. In the study of schizophrenia, a new approach in CNV filtering which was based on latent class analysis was adopted to gather information from multiple CNV prediction programs. The study of ARMs revealed 79 genes which were disrupted by CNVs in patients only. In particular, a de novo duplication of DKK4 (an antagonist of WNT signaling) was identified, and addition of Dkk4 protein was demonstrated to cause ARMs in mice. Another 10 genes uniquely disrupted in ARMs patients are also related to WNT signaling. Interestingly, this pathway was also significantly inferred by CNV in patients with schizophrenia. A different set of genes related to WNT signaling was disrupted in ARMs patients and patients with schizophrenia. WNT signaling is crucial for the development of multiple parts in the embryo. The contribution of different WNT signaling pathways at different development stages may vary. Apart from the WNT signaling pathway, other genes with biological relevance were also implicated in the two studies through gene-network and pathway analyses. The results from these two GWAS studies support our existing understanding of complex diseases that defects in various interacting genes could contribute to the same disease. In summary, the CNV results from the two studies have demonstrated the genetic heterogeneity nature of these two complex diseases. The findings also uncovered a set of putative disease candidate genes, which can be used as reference materials for future genetic research for ARMs and schizophrenia.
published_or_final_version
Psychiatry
Doctoral
Doctor of Philosophy
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Godoy, Thaís Fernanda. « Inherited copy number variation in the chicken genome and association with breast muscle traits ». Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/11/11139/tde-26072018-112650/.

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Copy number variation (CNV) is an important polymorphism that is associated with a wide range of traits in human, wild and livestock species. In chicken, an important source of animal protein and a developmental model organism, CNV is associated with several phenotypes and evolutionary footprints. However, identification and characterization of CNV inheritance on chicken genome lacks further investigation. We screened CNVs in chicken using two distinct populations with known pedigree. In 826 broilers we identified 25,819 CNVs (4,299 deletions and 21,520 duplications) of which 21,077 were inherited, 201 showed no inheritance and 4,541 were classified as de novo CNVs. In 514 F2 animals (layer and broiler cross) we identified 21,796 CNVs (2,254 deletions and 19,543 duplications) of which 18,230 were inherited, 587 not inherited and 2,979 were classified as de novo CNVs. After a strict filtering step to remove potential false positives and negative CNVs, only 220 (4.84%) and 430 (14.43%) de novo CNVs remained in the broiler and F2 populations, respectively. A total of 33.11% (50 out of 151) of the inherited CNVs identified in ten animals were validated by sequencing data. From the validated CNVs, 64% had more than 80% of their size (bp) validated. A total of 59% and 48.8% were classified as novel CNVs regions (CNVRs) in the broiler and F2, respectively. Considering the Bonferroni-corrected p-values for multiple testing and statistically significant p-values ≤ 0.01, we found two CNV segments significantly associated with breast weight, one with breast weight yield, six with breast meat weight, 18 CNV segments with breast meat yield, four with breast filet weight and two with breast yield. These CNV segments that were significantly associated overlapped with 181 protein-coding genes. The CNVseg 300, that was associated with all traits and encompass six CNVRs, overlapped a total of 26 protein-coding genes. Among these genes, the gene MYL1 (Myosin Light Chain 1) is expressed in the fast skeletal muscle fibers, and the genes MLPH (Melanophilin), PRLH (Prolactin Releasing Hormone) and RAB17 (Member RAS Oncogene Family), that were associated with the lavender phenotype (feather blue-grey color) and regulation of homeothermy and the metabolism. The present study improves our knowledge about CNV in the chicken genome and provides insight in the distribution and of different classes of CNVs, i.e. inherited and de novo CNVs, in two experimental chicken populations. In addition, the genome-wide association analyses were the first performed on broiler population with breast muscle traits, that are important characteristics for poultry production. The GWAS results allow us to understand the probably relationship between some genes and CNVRs that are significantly associated with breast muscle traits.
A variação de número de cópias (CNV) é um polimorfismo importante que está associado a uma ampla gama de características em seres humanos, espécies selvagens e domésticas. Em frango, que é uma importante fonte de proteína e considerado um modelo biológico, CNVs foram associados a vários fenótipos e passos evolutivos. No entanto, nenhum estudo foi realizado para a identificação e caracterização da herança da CNV no genoma da galinha. Identificamos as CNVs no genoma da galinha usando duas populações experimentais e com pedigree conhecido: uma população de frangos de corte e uma F2. Em 826 frangos de corte, identificamos 25.819 CNVs (4.299 deleções e 21.520 duplicações), dos quais 21.077 foram herdados, 201 não foram herdados e 4.541 foram CNVs denominados de novo. Em 514 animais F2, identificamos 21.796 CNVs (2.254 deleções e 19.543 duplicações) das quais 18.230 foram herdadas, 587 não foram herdadas e 2.979 foram de novo CNVs. Após a etapa de filtragem nos de novo CNVs, apenas 220 (4,84%) e 430 (14,43%) permaneceram nas populações de frango de corte e F2, respectivamente. Um total de 33,11% (50 de 151) das CNV identificadas por dados de genotipagem em dez animais foram validados por dados de sequenciamento. Dos validados, 64% tinham mais de 80% do tamanho (pb) validados. Um total de 59% e 48,8% foram classificados como novas regiões de CNVs (CNVRs) nas populações de frango de corte e F2, respectivamente. Considerando os p-values corrigidos por Bonferroni para testes múltiplos e estatisticamente significativos (≤ 0,01), encontramos dois segmentos de CNV significativamente associados ao peso do peito, um ao rendimento de peso de peito, seis ao peso de carne de peito, 18 ao rendimento de carne de peito, quatro ao peso de filé de peito e dois ao rendimento do filé de peito. Esses segmentos de CNV significativamente associados estão sobrepostos com 181 genes codificadores de proteínas. O CNVseg 300, que foi associado a todas as características e abrange seis CNVRs, foram sobrepostos a um total de 26 genes codificadores de proteínas. Entre estes genes, o gene MYL1 (Myosin Light Chain 1) é expresso nas fibras rápidas do músculo esquelético, e os genes MLPH (Melanophilin), PRLH (Prolactin Releasing Hormone) e RAB17 (Member RAS Oncogene Family), que foram anteiromente associados ao fenótipo de cor azul acinzentado de penas e à regulação da homeotermia e do metabolismo. O presente estudo melhora o conhecimento sobre CNVs no genoma de frango, especialmente sobre a distribuição de CNV herdadas, não herdadas e de novo, em duas populações experimentais de frango. Além disso, a associação genômica foi a primeira realizada na população de frangos de corte com características do músculo do peito, que são muito importantes para a avicultura. Os resultados do GWAS nos permitem compreender a provável relação entre alguns genes e CNVRs que foram significativamente associados às características do músculo do peito.
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Cifola, I. « Association of genome-wide DNA copy number data and transcriptional profile in renal carcinoma ». Doctoral thesis, Università degli Studi di Milano, 2006. http://hdl.handle.net/2434/31123.

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The work comprised in this PhD thesis described the development of a novel mathematical and statistical framework to analyse and combine, at genome-wide level, gene expression profile and DNA copy number data obtained by high-throughput oligonucleotide microarray platform. This dual strategy is now considered the most effective to understand the genetic causes underlying neoplastic diseases and identify interesting regions and genes with potential clinical application as novel tumor markers. In this thesis, we applied this combined approach to study the clear cell renal carcinoma (ccRCC) pathology, using firstly a human metastatic cell line as in vitro model and then a collection of clinical tumor tissue samples. Considering the physical position of genes along the genome, high-throughput gene expression data were used to assemble a regional transcriptional activity profile. In the meantime, a genome-wide DNA copy number map was assembled by high-throughput SNP mapping technology, thus identifying recurrent aberrations that might be novel candidate regions characterizing all or subsets of ccRCC samples. To filter the large amount of array-based data and narrow down the hundreds of candidate regions to those whose altered expression level was attributable to underlying chromosomal alterations, regional gene expression data were combined with DNA copy number alteration map at genome-wide level. After confirming a strong association between aneuploidy and regional transcriptional activity profiles, we identified a set of regions showing concomitant DNA alteration and modulated expression level and, within, particularly interesting genes as novel candidate RCC-related markers. Overall, this study demonstrates the efficacy of the combination of DNA and RNA profiles to improve the specificity of analysis and increase the possibility of identifying the genetic causes underlying ccRCC pathology, so highlighting candidate genes that are actively involved in the causation or mainteinance of the malignant phenotype.
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Li, Zhiwei. « Characterising copy number polymorphisms using next generation sequencing data ». Thesis, Uppsala universitet, Institutionen för biologisk grundutbildning, 2019. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-386050.

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We developed a pipeline to identify the copy number polymorphisms (CNPs) in the Northern Swedish population using whole genome sequencing (WGS) data. Two different methodologies were applied to discover CNPs in more than 1,000 individuals. We also studied the association between the identified CNPs with the expression level of 438 plasma proteins collected in the same population. The identified CNPs were summarized and filtered as a population copy number matrix for 1,021 individuals in 243,987 non-overlapping CNP loci. For the 872 individuals with both WGS and plasma protein biomarkers data, we conducted linear regression analyses with age and sex as covariance. From the analyses, we detected 382 CNP loci, clustered in 30 collapsed copy number variable regions (CNVRs) that were significantly associated with the levels of 17 plasma protein biomarkers (p < 4.68×10-10).
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Jarick, Ivonne [Verfasser], et Helmut [Akademischer Betreuer] Schäfer. « Strategies for Genome-Wide Association Analyses of Raw Copy Number Variation Data / Ivonne Jarick. Betreuer : Helmut Schäfer ». Marburg : Philipps-Universität Marburg, 2013. http://d-nb.info/1045729884/34.

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Livres sur le sujet "Association copy"

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Scotland, Life Association of, dir. [Circular] : As you are interested in the association, there is enclosed herewith a copy of our new pamphlet and annual report .. [Montreal ? : s.n., 1986.

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Office, Great Britain Colonial. Emigration (Canada) : Return to an address of the Honourable the House of Commons, dated 14 February 1837 for, copy of the annual report from the agent for emigration in Canada, for 1836. [London : HMSO, 2001.

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O'Kane, Brian. How to form a limited company : Complete with copy forms, example memorandum and articles of association, example registers, agenda for first meeting of directors ... everything you need ! 2e éd. Dublin : Oak Tree Press, 1995.

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O'Kane, Brian. How to form a limited company : Complete with copy forms, example memorandum and articles of association, example registers, agenda for first meeting of directors ... everything you need ! Dublin : Oak Tree Press, 1993.

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Bettauer, Hugo. The city without Jews : A novel of our time. New York : Bloch Pub. Co., 1991.

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Nelson, Christena C. I will make and keep my baptismal covenant : Sharing time activity ideas. Salt Lake City, Utah : Deseret Book, 2000.

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Harmon, Israel. Souvenir of the Harmon reunion, at the residence and grounds of Charles Rollin Harmon, Aurora, Ohio, Aug. 13, 1896 : Published in compliance with the request of the secretary of the association for a copy of the address of the occasion by the speaker, Israel Harmon. Springfield, Mass : [s.n.], 1985.

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Britain, Great. Colonial ships : Copy of a letter from the Honorary Secretary of the North American Colonial Association to the president of the Board of Trade, in reference to a letter dated 28th May 1844, to the President of that Board, from G.F. Young, Esq., Chairman of the General Shipowners' Society. [London : HMSO, 2002.

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Bradley, Janet. Using COPE to improve quality of care : The experience of the Family Planning Association of Kenya. New York : Population Council, 1998.

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Clark, Mary Higgins, et Thomas Larry Adcock. The International Association of Crime Writers presents Bad behavior. San Diego : Harcourt Brace, 1995.

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Chapitres de livres sur le sujet "Association copy"

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Geng, Yu, Zhongmeng Zhao, Daibin Cui, Tian Zheng, Xuanping Zhang, Xiao Xiao et Jiayin Wang. « An Expanded Association Approach for Rare Germline Variants with Copy-Number Alternation ». Dans Bioinformatics and Biomedical Engineering, 81–94. Cham : Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56154-7_9.

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Legendre, Agathe, Nadia Heddad, Marianne Cerf et Servane Penvern. « Experimenting Sustainable Orchards : How to Cope with Different Territorial Levels ? » Dans Proceedings of the 21st Congress of the International Ergonomics Association (IEA 2021), 191–95. Cham : Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-74602-5_29.

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Togo, Shinsaku, Yukiko Namba et Kazuhisa Takahashi. « Association of COPD and Lung Cancer : How Does COPD Management Change the Outcome of Treatment of Lung Cancer ? » Dans Respiratory Disease Series : Diagnostic Tools and Disease Managements, 333–52. Singapore : Springer Singapore, 2016. http://dx.doi.org/10.1007/978-981-10-0839-9_18.

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Moksnes, Unni Karin. « Sense of Coherence ». Dans Health Promotion in Health Care – Vital Theories and Research, 35–46. Cham : Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-63135-2_4.

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AbstractThis chapter introduces the concept of sense of coherence which is a core concept in the salutogenic model defined by Aron Antonovsky. The salutogenic model posits that sense of coherence is a global orientation, where life is understood as more or less comprehensible, meaningful, and manageable. A strong sense of coherence helps the individual to mobilize resources to cope with stressors and manage tension successfully with the help of identification and use of generalized and specific resistance resources. Through this mechanism, the sense of coherence helps determine one’s movement on the health ease/dis-ease continuum. Antonovsky developed an instrument named Orientation to Life Questionnaire to measure the sense of coherence which exists in two original versions: a 29-item and a 13-item version. This chapter presents the measurement of the sense of coherence and the validity and reliability of the 13-item scale. It gives a brief overview of empirical research of the role of sense of coherence in association with mental health and quality of life and also on sense of coherence in different patient groups including nursing home residents, patients with coronary heart disease, diabetes, cancer, and mental health problems. It also briefly discusses the implications of using salutogenesis in health care services and the importance of implementing this perspective in meeting with different patient groups. The salutogenic approach may promote a healthy orientation toward helping the patient to cope with everyday stressors and integrate the effort regarding how to help the patient manage to live with disease and illness and promote quality of life.
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Plagnol, Vincent, et David Clayton. « Copy Number Variant Association Studies ». Dans Analysis of Complex Disease Association Studies, 215–30. Elsevier, 2011. http://dx.doi.org/10.1016/b978-0-12-375142-3.10013-6.

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Stankiewicz, Paweł, et James R. Lupski. « The genomic basis of medicine ». Dans Oxford Textbook of Medicine, sous la direction de John D. Firth, Christopher P. Conlon et Timothy M. Cox, 218–35. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0030.

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The first phase of the studies on genetic variation in humans has been focused on single nucleotide polymorphisms and common variation. The large number of single nucleotide polymorphisms identified has enabled successful genome-wide association studies for disease susceptibility risk of complex traits (e.g. diabetes and cancer), but for the most part has had limited practical applications in clinical medicine. This chapter examines the recent technological developments which have enabled a higher-resolution analysis of the human genome and its extensive submicroscopic structural variation, including copy-number variants. Copy-number variants involving dosage-sensitive genes result in several diseases and contribute to human diversity and evolution. An emerging group of genetic diseases have been described that result from DNA rearrangements (e.g. copy-number variants and other structural variations including copy-number neutral inversions and translocations), rather than from single nucleotide changes.
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Hu, Hae-Jin, et Yeun-Jun Chung. « Genome-Wide Association Studies of Copy Number Variation in Autism Spectrum Disorder ». Dans Autism - A Neurodevelopmental Journey from Genes to Behaviour. InTech, 2011. http://dx.doi.org/10.5772/22207.

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Kendall, Kimberley M., James T. R. Walters et Michael C. O’Donovan. « Genetics of schizophrenia ». Dans New Oxford Textbook of Psychiatry, sous la direction de John R. Geddes, Nancy C. Andreasen et Guy M. Goodwin, 587–96. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198713005.003.0059.

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This chapter on genetics of schizophrenia briefly summarizes the key findings from genetic epidemiology and the early, but largely unsuccessful, findings from molecular genetics, based on linkage and candidate gene studies. It then reviews in detail the contemporary findings from genome-wide studies of the disorder, including those from genome-wide association studies (GWAS) of common variation, copy number variant studies (CNV) of rare variation, and exome-wide sequencing studies. It considers the implications of these studies with respect to pathophysiology, the relationship between schizophrenia and other psychiatric disorders, and the current clinical implications of the findings.
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Campbell, Ian. « The Paired Columned Entrance of Holyroodhouse as a Solomonic Signifier ». Dans The Architecture of Scotland, 1660-1750, 39–50. Edinburgh University Press, 2020. http://dx.doi.org/10.3366/edinburgh/9781474455268.003.0003.

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Like many European monarchs, the Stuarts regarded Solomon as the exemplar of kingship. Campbell and Mackechnie (2011), noting that William Schaw’s Chapel Royal at Stirling of 1594 was built as a copy of Solomon's Temple, argued that its entrance, framed by an arch with paired columns, is based on Roman coins showing the Second Temple of Jerusalem. There is also an association of paired columns with royalty which first seems to emerge in the mid-sixteenth century with triumphal arches both temporary and permanent for Habsburg and Valois monarchs. YwesPauwels has argued that paired columns were subsequently reserved for royal buildings in France. This chapter explores these motifs focusing on Sir William Bruce’s entrance to Holyroodhouse, which, it is argued, has the same Solomonic connotations as the chapel entrance at Stirling.
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Ritchie, Donald A. « Drew Pearson’s Leg Men ». Dans The Columnist, 89–106. Oxford University Press, 2021. http://dx.doi.org/10.1093/oso/9780190067588.003.0005.

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Filling a daily column that mixed breaking news with opinion required more news gathering than Drew Pearson could handle on his own. He augmented his reporting with “leg men,” a team of able news hunters. They lacked a byline but were compensated by their association with the nation’s most famous muckraking columnist, whose clout made them respected and feared. Operating out of half of Pearson’s Georgetown home, the leg men produced copy, scored scoops, and occasionally came under fire for questionable tactics. Among his top staff, David Karr prompted his boss to take progressive stands, but also came under fire for having Communist sympathies. Jack Anderson, who later shared the byline with Pearson and succeeded him, was more neutral in his politics but even more aggressive in digging up government secrets.
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Actes de conférences sur le sujet "Association copy"

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Xiong, Momiao, Hua Dong, Hoicheong Siu, Gang Peng, Yi Wang et Li Jin. « Genome-Wide Association Studies of Copy Number Variation in Glioblastoma ». Dans 2010 4th International Conference on Bioinformatics and Biomedical Engineering (iCBBE). IEEE, 2010. http://dx.doi.org/10.1109/icbbe.2010.5516437.

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Xu, Song, Haoran Li, Peng Yuan, Youzheng Wu, Xiaodong He et Bowen Zhou. « Self-Attention Guided Copy Mechanism for Abstractive Summarization ». Dans Proceedings of the 58th Annual Meeting of the Association for Computational Linguistics. Stroudsburg, PA, USA : Association for Computational Linguistics, 2020. http://dx.doi.org/10.18653/v1/2020.acl-main.125.

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Chang, Tsui-Shan, Chun-Chi Chen, Ru-Ling Liao, Che-Wei Kuo et Wen-Hsiao Peng. « Intra line copy for HEVC screen content coding ». Dans 2014 Asia-Pacific Signal and Information Processing Association Annual Summit and Conference (APSIPA). IEEE, 2014. http://dx.doi.org/10.1109/apsipa.2014.7041533.

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Yan, Lingyu, Xinyu Ou et Hefei Ling. « Local search optimized hashing for fast image copy detection ». Dans 2014 Asia-Pacific Signal and Information Processing Association Annual Summit and Conference (APSIPA). IEEE, 2014. http://dx.doi.org/10.1109/apsipa.2014.7041566.

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Wu, Peng, Bowei Zou, Ridong Jiang et AiTi Aw. « GCDST : A Graph-based and Copy-augmented Multi-domain Dialogue State Tracking ». Dans Findings of the Association for Computational Linguistics : EMNLP 2020. Stroudsburg, PA, USA : Association for Computational Linguistics, 2020. http://dx.doi.org/10.18653/v1/2020.findings-emnlp.95.

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Luan, Haoqing, et N. F. Law. « A novel dual-threshold SIFT-based copy-move forgery detection ». Dans 2016 Asia-Pacific Signal and Information Processing Association Annual Summit and Conference (APSIPA). IEEE, 2016. http://dx.doi.org/10.1109/apsipa.2016.7820872.

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Li, Yuanman, et Jiantao Zhou. « Image copy-move forgery detection using hierarchical feature point matching ». Dans 2016 Asia-Pacific Signal and Information Processing Association Annual Summit and Conference (APSIPA). IEEE, 2016. http://dx.doi.org/10.1109/apsipa.2016.7820758.

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Kuo, Che-Wei, Hsueh-Ming Hang et Chun-Liang Chien. « Intra block copy hash reduction for HEVC screen content coding ». Dans 2016 Asia-Pacific Signal and Information Processing Association Annual Summit and Conference (APSIPA). IEEE, 2016. http://dx.doi.org/10.1109/apsipa.2016.7820766.

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Shi, Jianxin, et Peng Li. « Abstract 3969 : A novel statistical method for detecting association of copy number variations in genome-wide association studies of cancers ». Dans Proceedings : AACR 103rd Annual Meeting 2012‐‐ Mar 31‐Apr 4, 2012 ; Chicago, IL. American Association for Cancer Research, 2012. http://dx.doi.org/10.1158/1538-7445.am2012-3969.

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Lin, Xiexiong, Weiyu Jian, Jianshan He, Taifeng Wang et Wei Chu. « Generating Informative Conversational Response using Recurrent Knowledge-Interaction and Knowledge-Copy ». Dans Proceedings of the 58th Annual Meeting of the Association for Computational Linguistics. Stroudsburg, PA, USA : Association for Computational Linguistics, 2020. http://dx.doi.org/10.18653/v1/2020.acl-main.6.

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Rapports d'organisations sur le sujet "Association copy"

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Seroussi, Eyal, et George Liu. Genome-Wide Association Study of Copy Number Variation and QTL for Economic Traits in Holstein Cattle. United States Department of Agriculture, septembre 2010. http://dx.doi.org/10.32747/2010.7593397.bard.

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Copy number variation (CNV) has been recently identified in human and other mammalian genomes and increasing awareness that CNV might be a major source for heritable variation in complex traits has emerged. Despite this, little has been published on CNVs in Holsteins. In order to fill this knowledge-gap, we proposed a genome-wide association study between quantitative trait loci (QTL) for economic traits and CNV in the Holstein cattle. The approved feasibility study was aimed at the genome-wide characterization of CNVs in Holstein cattle and at the demonstrating of their possible association with economic traits by performing the activities of preparation of DNA samples, Comparative Genomic Hybridization (CGH), initial association study between CNVs and production traits and characterization of CNVSNP associations. For both countries, 40 genomic DNA samples of bulls representing the extreme sub-populations for economically important traits were CGH analyzed using the same reference genome on a NimbleGen tiling array. We designed this array based on the latest build of the bovine genome (UMD3) with average probe spacing of 1150 bases (total number of probes was 2,166,672). Two CNV gene clusters, PLA2G2D on BTA2 and KIAA1683 on BTA7 revealed significant association with milk percentage and cow fertility, respectively, and were chosen for further characterization and verification in a larger sample using other methodologies including sequencing, tag SNPs and real time PCR (qPCR). Comparison between these four methods indicated that there is under estimation of the number of CNV loci in Holstein cattle and their complexity. The variation in sequence between different copies seemed to affect their functionality and thus the hybridization based methods were less informative than the methods that are based on sequencing. We thus conclude that large scale sequencing effort complemented by array CGH should be considered to better detect and characterize CNVs in order to effectively employ them in marker-assisted selection.
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Luo, Shuaihantian, Ying Zhou et Guiying Zhang. Association between complement 4 copy number variation and systemic lupus erythematosus : a protocol for systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, août 2020. http://dx.doi.org/10.37766/inplasy2020.8.0076.

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Bradley, Janet, Judith Bruce, Soledad Diaz, Carlos Huezo et Kalimi Mworia. Using COPE to improve quality of care : The experience of the Family Planning Association of Kenya. Population Council, 1998. http://dx.doi.org/10.31899/pgy4.1005.

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Drabczyk, Maria, et Johan Oomen. COVID-19 as a Driver for Change in Audiovisual Archives. International Federation of Television Archives, mars 2021. http://dx.doi.org/10.18146/coav2021.

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This report captures the various ways in which the cultural heritage sector is adapting, not only to cope with the uncertainty caused by the COVID-19 pandemic, but also to flourish in the future. It is the result of a joint virtual exchange between members of the International Association of Sound and Audiovisual Archives (IASA) and the International Federation of Television Archives (FIAT/IFTA). The aim was to gather professionals from the global archival community and to discuss how positive changes could be identified and sustained, to share best practices and individual experiences, and to collaboratively think out the best ways forward.
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Czerwaty, Katarzyna, Karolina Dżaman, Krystyna Maria Sobczyk et Katarzyna Irmina Sikrorska. The Overlap Syndrome of Obstructive Sleep Apnea and Chronic Obstructive Pulmonary Disease : A Systematic Review. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, novembre 2022. http://dx.doi.org/10.37766/inplasy2022.11.0077.

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Review question / Objective: To provide the essential findings in the field of overlap syndrome of chronic obstructive pulmonary disease and obstructive sleep apnea, including prevalence, possible predictors, association with clinical outcomes, and severity compared to both chronic obstructive pulmonary disease and obstructive sleep apnea patients. Condition being studied: OSA is characterized by complete cessation (apnea) or significant decrease (hy-popnea) in airflow during sleep and recurrent episodes of upper airway collapse cause it during sleep leading to nocturnal oxyhemoglobin desaturations and arousals from rest. The recurrent arousals which occur in OSA lead to neurocognitive consequences, daytime sleepiness, and reduced quality of life. Because of apneas and hypopneas, patients are experiencing hypoxemia and hypercapnia, which result in increasing levels of catecholamine, oxidative stress, and low-grade inflammation that lead to the appearance of cardio-metabolic consequences of OSA. COPD is a chronic inflammatory lung disease defined by persistent, usually pro-gressive AFL (airflow limitation). Changes in lung mechanics lead to the main clini-cal manifestations of dyspnea, cough, and chronic expectoration. Furthermore, patients with COPD often suffer from anxiety and depression also, the risk of OSA and insomnia is higher than those hospitalized for other reasons. Although COPD is twice as rare as asthma but is the cause of death eight times more often.
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Ohad, Nir, et Robert Fischer. Regulation of Fertilization-Independent Endosperm Development by Polycomb Proteins. United States Department of Agriculture, janvier 2004. http://dx.doi.org/10.32747/2004.7695869.bard.

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Arabidopsis mutants that we have isolated, encode for fertilization-independent endosperm (fie), fertilization-independent seed2 (fis2) and medea (mea) genes, act in the female gametophyte and allow endosperm to develop without fertilization when mutated. We cloned the FIE and MEA genes and showed that they encode WD and SET domain polycomb (Pc G) proteins, respectively. Homologous proteins of FIE and MEA in other organisms are known to regulate gene transcription by modulating chromatin structure. Based on our results, we proposed a model whereby both FIE and MEA interact to suppress transcription of regulatory genes. These genes are transcribed only at proper developmental stages, as in the central cell of the female gametophyte after fertilization, thus activating endosperm development. To test our model, the following questions were addressed: What is the Composition and Function of the Polycomb Complex? Molecular, biochemical, genetic and genomic approaches were offered to identify members of the complex, analyze their interactions, and understand their function. What is the Temporal and Spatial Pattern of Polycomb Proteins Accumulation? The use of transgenic plants expressing tagged FIE and MEA polypeptides as well as specific antibodies were proposed to localize the endogenous polycomb complex. How is Polycomb Protein Activity Controlled? To understand the molecular mechanism controlling the accumulation of FIE protein, transgenic plants as well as molecular approaches were proposed to determine whether FIE is regulated at the translational or posttranslational levels. The objectives of our research program have been accomplished and the results obtained exceeded our expectation. Our results reveal that fie and mea mutations cause parent-of-origin effects on seed development by distinct mechanisms (Publication 1). Moreover our data show that FIE has additional functions besides controlling the development of the female gametophyte. Using transgenic lines in which FIE was not expressed or the protein level was reduced during different developmental stages enabled us for the first time to explore FIE function during sporophyte development (Publication 2 and 3). Our results are consistent with the hypothesis that FIE, a single copy gene in the Arabidopsis genome, represses multiple developmental pathways (i.e., endosperm, embryogenesis, shot formation and flowering). Furthermore, we identified FIE target genes, including key transcription factors known to promote flowering (AG and LFY) as well as shoot and leaf formation (KNAT1) (Publication 2 and 3), thus demonstrating that in plants, as in mammals and insects, PcG proteins control expression of homeobox genes. Using the Yeast two hybrid system and pull-down assays we demonstrated that FIE protein interact with MEA via the N-terminal region (Publication 1). Moreover, CURLY LEAF protein, an additional member of the SET domain family interacts with FIE as well. The overlapping expression patterns of FIE, with ether MEA or CLF and their common mutant phenotypes, demonstrate the versatility of FIE function. FIE association with different SET domain polycomb proteins, results in differential regulation of gene expression throughout the plant life cycle (Publication 3). In vitro interaction assays we have recently performed demonstrated that FIE interacts with the cell cycle regulatory component Retinobalsoma protein (pRb) (Publication 4). These results illuminate the potential mechanism by which FIE may restrain embryo sac central cell division, at least partly, through interaction with, and suppression of pRb-regulated genes. The results of this program generated new information about the initiation of reproductive development and expanded our understanding of how PcG proteins regulate developmental programs along the plant life cycle. The tools and information obtained in this program will lead to novel strategies which will allow to mange crop plants and to increase crop production.
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Chen, Junping, Zach Adam et Arie Admon. The Role of FtsH11 Protease in Chloroplast Biogenesis and Maintenance at Elevated Temperatures in Model and Crop Plants. United States Department of Agriculture, mai 2013. http://dx.doi.org/10.32747/2013.7699845.bard.

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specific objectives of this proposal were to: 1) determine the location, topology, and oligomerization of FtsH11 protease; 2) identify the substrate/s of FtsH11 and the downstream components involved in maintaining thermostability of chloroplasts; 3) identify new elements involved in FtsH11 protease regulatory network related to HT adaptation processes in chloroplast; 4) Study the role of FtsH11 homologs from crop species in HT tolerance. Background to the topic: HT-tolerant varieties that maintain high photosynthetic efficiency at HT, and cope better with daily and seasonal temperature fluctuations are in great need to alleviate the effect of global warming on food production. Photosynthesis is a very complex process requiring accurate coordination of many complex systems and constant adjustments to the changing environments. Proteolytic activities mediated by various proteases in chloroplast are essential part of this process and critical for maintaining normal chloroplast functions under HT. However, little is known about mechanisms that contribute to adaptation of photosynthetic processes to HT. Our study has shown that a chloroplast-targeted Arabidopsis FtsH11 protease plays an essential and specific role in maintaining thermostability of thylakoids and normal photosynthesis at moderate HT. We hypothesized that FtsH11 homologs recently identified in other plant species might have roles similarly to that of AtFtsH1. Thus, dissecting the underlying mechanisms of FtsH11 in the adaptation mechanisms in chloroplasts to HT stress and other elements involved will aid our effort to produce more agricultural products in less favorable environments. Major conclusions, solutions, achievements - Identified the chloroplast inner envelope membrane localization of FtsH11. - Revealed a specific association of FtsH11 with the a and b subunits of CPN60. - Identified the involvement of ARC6, a protein coordinates chloroplast division machineries in plants, in FtsH11 mediated HT adaptation process in chloroplast. -Reveal possible association of a polyribonucleotide nucleotidyltransferase (cpPNPase), coded by At3G03710, with FtsH11 mediated HT adaptation process in chloroplast. - Mapped 4 additional loci in FtsH11 mediated HT adaptation network in chloroplast. - Demonstrated importance of the proteolytic activity of FtsH11 for thermotolerance, in addition to the ATPase activity. - Demonstrated a conserved role of plant FtsH11 proteases in chloroplast biogenesis and in maintaining structural and functional thermostability of chloroplast at elevated temperatures. Implications, both scientific and agricultural:Three different components interacting with FtsH11 were identified during the course of this study. At present, it is not known whether these proteins are directly involved in FtsH11mediated thermotolerance network in chloroplast and/or how these elements are interrelated. Studies aiming to connect the dot among biological functions of these networks are underway in both labs. Nevertheless, in bacteria where it was first studied, FtsH functions in heat shock response by regulating transcription level of σ32, a heat chock factor regulates HSPsexpression. FtsH also involves in control of biosynthesis of membrane components and quality control of membrane proteins etc. In plants, both Arc 6 and CPN60 identified in this study are essential in chloroplast division and developments as mutation of either one impairs chloroplast division in Arabidopsis. The facts that we have found the specific association of both α and β CPN60 with FtsH11 protein biochemically, the suppression/ enhancement of ftsh11 thermosensitive phenotype by arc6 /pnp allele genetically, implicate inter-connection of these networks via FtsH11 mediated network(s) in regulating the dynamic adaptation processes of chloroplast to temperature increases at transcriptional, translational and post-translational levels. The conserved role of FtsH11 proteases in maintaining thermostability of chloroplast at HT demonstrated here provides a foundation for improving crop photosynthetic performance at high temperatures.
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A participatory evaluation of the life-skills training programme in Myanmar. Population Council, 2000. http://dx.doi.org/10.31899/pgy2000.1005.

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In 1993 UNICEF/Myanmar launched an innovative project aimed at preventing the further spread of HIV/AIDS through the promotion of reproductive health. One of the activities undertaken was life-skills training for women and youth, conducted in collaboration with the Myanmar Red Cross Society (MRCS) and the Myanmar Maternal and Child Welfare Association (MMCWA). The objective of the training activities was to encourage and promote informed decision-making and care-seeking behavior among youth and women. The training aims to provide detailed and accurate information concerning sexuality, birth spacing, sexually transmitted diseases, and HIV/AIDS, and to provide skills for youth and women to enable them to cope with their daily lives and become proponents of community mobilization. This report presents findings of a participatory evaluation of the life-skills training activities implemented in late 1997 and early 1998. At the time of the evaluation, life-skills training had been conducted in 27 project townships. MRCS activities targeted youth aged 15–25 years, and MMCWA worked primarily with married women aged 20–40 years.
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