Готові списки джерел за темами / Risk variants

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Добірка наукової літератури з теми "Risk variants"

Автор: Grafiati

Опубліковано: 21 грудня 2024

Оновлено: 31 липня 2025

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Статті в журналах з теми "Risk variants"

Shah, Shrijal S., Herbert Lannon, Leny Dias, et al. "APOL1 Kidney Risk Variants Induce Cell Death via Mitochondrial Translocation and Opening of the Mitochondrial Permeability Transition Pore." Journal of the American Society of Nephrology 30, no. 12 (2019): 2355–68. http://dx.doi.org/10.1681/asn.2019020114.

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BackgroundGenetic Variants in Apolipoprotein L1 (APOL1) are associated with large increases in CKD rates among African Americans. Experiments in cell and mouse models suggest that these risk-related polymorphisms are toxic gain-of-function variants that cause kidney dysfunction, following a recessive mode of inheritance. Recent data in trypanosomes and in human cells indicate that such variants may cause toxicity through their effects on mitochondria.MethodsTo examine the molecular mechanisms underlying APOL1 risk variant–induced mitochondrial dysfunction, we generated tetracycline-inducible H

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Bayley, Jean Pierre, Birke Bausch, Johannes Adriaan Rijken, et al. "Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma–paraganglioma." Journal of Medical Genetics 57, no. 2 (2019): 96–103. http://dx.doi.org/10.1136/jmedgenet-2019-106214.

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BackgroundPathogenic germline variants in subunits of succinate dehydrogenase (SDHB, SDHC and SDHD) are broadly associated with disease subtypes of phaeochromocytoma–paraganglioma (PPGL) syndrome. Our objective was to investigate the role of variant type (ie, missense vs truncating) in determining tumour phenotype.MethodsThree independent datasets comprising 950 PPGL and head and neck paraganglioma (HNPGL) patients were analysed for associations of variant type with tumour type and age-related tumour risk. All patients were carriers of pathogenic germline variants in the SDHB, SDHC or SDHD gen

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Han, Shengtong. "Bayesian Rare Variant Analysis Identifies Novel Schizophrenia Putative Risk Genes." Journal of Personalized Medicine 14, no. 8 (2024): 822. http://dx.doi.org/10.3390/jpm14080822.

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The genetics of schizophrenia is so complex that it involves both common variants and rare variants. Rare variant association studies of schizophrenia are challenging because statistical methods for rare variant analysis are under-powered due to the rarity of rare variants. The recent Schizophrenia Exome meta-analysis (SCHEMA) consortium, the largest consortium in this field to date, has successfully identified 10 schizophrenia risk genes from ultra-rare variants by burden test, while more risk genes remain to be discovered by more powerful rare variant association test methods. In this study,

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Park, Jihye, Soo Youn Lee, Su Youn Baik, et al. "Gene-Wise Burden of Coding Variants Correlates to Noncoding Pharmacogenetic Risk Variants." International Journal of Molecular Sciences 21, no. 9 (2020): 3091. http://dx.doi.org/10.3390/ijms21093091.

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Genetic variability can modulate individual drug responses. A significant portion of pharmacogenetic variants reside in the noncoding genome yet it is unclear if the noncoding variants directly influence protein function and expression or are present on a haplotype including a functionally relevant genetic variation (synthetic association). Gene-wise variant burden (GVB) is a gene-level measure of deleteriousness, reflecting the cumulative effects of deleterious coding variants, predicted in silico. To test potential associations between noncoding and coding pharmacogenetic variants, we comput

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Barbirou, Mouadh, Amanda A. Miller, Amel Mezlini, Balkiss Bouhaouala-Zahar, and Peter J. Tonellato. "Variant Characterization of a Representative Large Pedigree Suggests “Variant Risk Clusters” Convey Varying Predisposition of Risk to Lynch Syndrome." Cancers 15, no. 16 (2023): 4074. http://dx.doi.org/10.3390/cancers15164074.

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Recently, worldwide incidences of young adult aggressive colorectal cancer (CRC) have rapidly increased. Of these incidences diagnosed as familial Lynch syndrome (LS) CRC, outcomes are extremely poor. In this study, we seek novel familial germline variants from a large pedigree Tunisian family with 12 LS-affected individuals to identify putative germline variants associated with varying risk of LS. Whole-genome sequencing analysis was performed to identify known and novel germline variants shared between affected and non-affected pedigree members. SNPs, indels, and structural variants (SVs) we

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Cannon-Albright, Lisa Anne, Craig Carl Teerlink, Jeff Stevens, et al. "A Rare Variant in ERF (rs144812092) Predisposes to Prostate and Bladder Cancers in an Extended Pedigree." Cancers 13, no. 10 (2021): 2399. http://dx.doi.org/10.3390/cancers13102399.

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Pairs of related bladder cancer cases who belong to pedigrees with an excess of bladder cancer were sequenced to identify rare, shared variants as candidate predisposition variants. Candidate variants were tested for association with bladder cancer risk. A validated variant was assayed for segregation to other related cancer cases, and the predicted protein structure of this variant was analyzed. This study of affected bladder cancer relative pairs from high-risk pedigrees identified 152 bladder cancer predisposition candidate variants. One variant in ERF (ETS Repressing Factor) was significan

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Bychkovsky, Brittany L., Nihat B. Agaoglu, Carolyn Horton, et al. "Double CHEK2 Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes." JAMA Network Open 8, no. 1 (2025): e2451361. https://doi.org/10.1001/jamanetworkopen.2024.51361.

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ImportanceCHEK2 pathogenic and likely pathogenic variants (PVs) are common, and low-risk (LR) variants, p.I157T, p.S428F, and p.T476M, are even more common. Biallelic CHEK2 PVs are associated with specific cancer phenotypes, including early age at onset of breast cancers. Whether biallelic LR variants are associated with cancer predisposition is unknown.ObjectiveTo characterize the cancer phenotype among individuals with biallelic CHEK2 variants, specifically those that have been associated with lower cancer risk in the heterozygous state.Design, Setting, and ParticipantsThis retrospective obs

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Cornelis, Stéphanie S., and Frans P. M. Cremers. "Improving personalised genetic counselling for ABCA4 -associated retinopathy: Updated recurrence risk estimates." Medizinische Genetik 37, no. 1 (2025): 19–25. https://doi.org/10.1515/medgen-2024-2065.

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Abstract Stargardt disease type 1 (STGD1) is caused by biallelic pathogenic variants in ABCA4. These variants vary in their effect on the resulting protein and the disease phenotype. Not all variant combinations cause disease, which complicates the determination of the recurrence risk of STGD1. Previously, the recurrence risk of STGD1 was estimated by analyzing variants in patient data and using their population variant frequencies in which white patients are overrepresented. Furthermore, assuming that variant effects are independent of genetic ancestry, estimates were made for each gnomAD pop

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Boddicker, Nicholas J., Raphael Mwangi, Dennis P. Robinson, et al. "Abstract 5233: Germline CHEK2 variants and risk of lymphoma." Cancer Research 83, no. 7_Supplement (2023): 5233. http://dx.doi.org/10.1158/1538-7445.am2023-5233.

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Abstract Lymphoma is the sixth most commonly diagnosed cancer in the US. Genome-wide association studies have identified common variants associated with risk of specific lymphoma subtypes, but less is known about the contribution of rare inherited variants in the genetic architecture of lymphoma risk. CHEK2 is important to DNA repair and 2 small studies have found evidence of an association between CHEK2 variants and risk of lymphoma. Here, we investigated loss of function (LoF) variants in CHEK2 with risk of lymphoma (overall and subtypes). The study population included newly diagnosed lympho

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Tu, J. J., L. Kuhn, L. Denny, K. J. Beattie, A. Lorincz, and T. C. Wright. "Molecular variants of human papillomavirus type 16 and risk for cervical neoplasia in South Africa." International Journal of Gynecologic Cancer 16, no. 2 (2006): 736–42. http://dx.doi.org/10.1136/ijgc-00009577-200603000-00043.

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Non-European variants of human papillomavirus (HPV) type 16 are generally associated with a greater risk of cervical neoplasia than European prototype variants. We investigated whether this association would persist in a population in which non-European HPV 16 variants were more common. We sequenced HPV 16 isolates in cervical samples collected from 93 Black South African women enrolled in a cervical cancer screening study and examined associations between cervical neoplasia identified though colposcopy with cervical biopsy and the specific HPV 16 variant identified. The European prototype var

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Дисертації з теми "Risk variants"

Dubois, Patrick Charles Alexander. "Genetic risk variants in intestinal inflammatory disorders." Thesis, Queen Mary, University of London, 2010. http://qmro.qmul.ac.uk/xmlui/handle/123456789/704.

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This thesis includes work on the genetics of intestinal inflammatory disorders, concentrating on coeliac disease and Crohn’s disease. It explores how common genetic variants influence risk of complex phenotypes including immunological intolerance to gluten (coeliac disease) and intolerance to therapeutic agents (azathioprine and mercaptopurine) used in the treatment of intestinal inflammatory diseases. Finally it presents work aiming to move from genetic associations with complex phenotypes to understanding of how these variants modulate immunological processes. Results of a large genome wide

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Winton, Helen Louise. "Inflammation related genetic variants in high risk corneal transplantation." Thesis, University of Bristol, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.617796.

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Corneal transplantation is the oldest, most common and usually the most successful type of solid tissue allograft. The acceptancc of corneal allografts compared to other categories of allografts is called immune privilege. However, some conditions rob the corneal allograft of its immune privilege and promote rejection, which remains the leading cause of corneal graft failure. The precise immune mechanism underlying graft failure is incompletely understood. While differences in human leukocyte antigen (HLA) molecules between donor and host contribute to the alloreactivity driving the donor-anti

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Cameli, Cinzia <1988&gt. "Investigation of genetic risk variants for nicotine dependence and cluster headache." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amsdottorato.unibo.it/8583/1/Cinzia_Cameli_PhD_Thesis.pdf.

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The main focus of my PhD has been the analysis of rare and common variants in genetic susceptibility to two complex traits: nicotine dependence (ND) and cluster headache (CH). Firstly, we conducted a genetic study to investigate the role of genetic variation at CHRNA7 and CHRFAM7A in smoking phenotypes, and to test the hypothesis that 7nAChR variation may modulate the efficacy of varenicline in smoking cessation. The study was performed on 408 regular tobacco smokers, recruited at smoking cessation centers, including 142 individuals treated with varenicline. We determined the CHRNA7 and CHRF

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Zhao, Jing. "Rare and common genetic variant associations with quantitative human phenotypes." Diss., Georgia Institute of Technology, 2015. http://hdl.handle.net/1853/53923.

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This dissertation aims at investigating the association between genotypes and phenotypes in human. Both common and rare regulatory variants have been studied. The phenotypes include disease risk, clinical traits and gene expression levels. This dissertation describes three different types of association study. The first study investigated the relationship between common variants and three sub-clinical traits as well as three complex diseases in the Center for Health Discovery and Well Being study (CHDWB). The second study is GWAS analysis of TNF-α and BMI/CRP conducted as a contribution to met

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Song, Ci, Nancy L. Pedersen, Chandra A. Reynolds, et al. "Genetic Variants from Lipid-Related Pathways and Risk for Incident Myocardial Infarction." Uppsala universitet, Molekylär medicin, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-200108.

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Background: Circulating lipids levels, as well as several familial lipid metabolism disorders, are strongly associated with initiation and progression of atherosclerosis and incidence of myocardial infarction (MI). Objectives: We hypothesized that genetic variants associated with circulating lipid levels would also be associated with MI incidence, and have tested this in three independent samples. Setting and Subjects: Using age- and sex-adjusted additive genetic models, we analyzed 554 single nucleotide polymorphisms (SNPs) in 41 candidate gene regions proposed to be involved in lipid-related

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Eggert, Stacey Lynn. "Identification and Characterization of Genetic Variants Conveying Risk to Develop Uterine Leiomyomata." Thesis, Harvard University, 2011. http://dissertations.umi.com/gsas.harvard:10005.

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Uterine leiomyomata (UL), commonly known as fibroids, are a major public health problem given their extreme prevalence (>70%), severity of associated symptoms, and indication for hysterectomies in women of reproductive age. Familial aggregation and twin studies have provided evidence for a genetic component to predisposition to develop UL. To date, a small number of genes involved in UL biology, including HMGA2, have been discovered through cytogenetic studies of the tumors. HMGA2 is involved in recurrent translocations in UL and a TC repeat polymorphism in the gene is associated with UL diagn

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West, S. L. "The search for genetic variants that influence the risk of colorectal cancer." Thesis, University College London (University of London), 2011. http://discovery.ucl.ac.uk/1302552/.

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The main aim of this thesis was to uncover common low penetrance variants that influence susceptibility to colorectal cancer (CRC). This was largely considered in relation to the analysis of the plethora of genetic data from our large genome‐wide association study. My work includes fine‐mapping of associated loci through additional genotyping, gene screening, and imputation for the prediction of untyped SNPs, which improved the resolution for fine-mapping and facilitated meta-analysis with datasets typed on different arrays. This led to the identification of 14 independent risk loci, while an

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Hamdi, Yosr. "Evaluation of the association between common genetic variants and breast cancer risk." Doctoral thesis, Université Laval, 2017. http://hdl.handle.net/20.500.11794/28384.

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Le cancer du sein est la néoplasie la plus fréquente chez la femme. Un ensemble de facteurs génétiques et environnementaux sont impliqués dans cette maladie complexe. Dans le cadre de mes études doctorales, je me suis intéressée à la composante génétique associée au risque de cancer du sein chez les femmes dans la population générale ainsi qu’à la modification du risque pour ce cancer chez des porteuses de mutations des gènes BRCA1 et BRCA2. Actuellement, environ la moitié de cette composante génétique est expliquée par une combinaison d'allèles à pénétrance faible, moyenne ou élevée. En outre

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Soemedi, Rachel. "Contribution of copy number variants to the risk of sporadic congenital heart disease." Thesis, University of Newcastle Upon Tyne, 2012. http://hdl.handle.net/10443/1740.

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Congenital heart disease (CHD) is the most common congenital malformation with a birth prevalence of 7/1000. CHD may occur as Mendelian syndromic disorders or as isolated conditions. The latter represent the majority (~80%) of CHD cases. Recent technological advancements have allowed large-scale genome-wide characterization of copy number variants (CNVs), which have been proposed to contribute to the risk of sporadic CHD. This thesis presents a genome-wide CNV study involving 2256 sporadic, isolated CHD patients, 283 trio CHD families, and 1538 ancestry-matched controls that were typed on the

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Kvaskoff, Marina. "Endometriosis and naevus-associated gene variants in relation to risk of cutaneous melanoma." Paris 11, 2009. http://www.theses.fr/2009PA11T090.

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Книги з теми "Risk variants"

Popkin, Ronna. Variants of Significance? The Production and Management of Genetic Risk for Breast and Ovarian Cancer in the Era of Multi-Gene Panel Testing. [publisher not identified], 2019.

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Lajeri, Fatma. Risk aversion and prudence: The case of mean-variance preferences. INSEAD, 1993.

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Martin, Jolie Mae. Variance-seeking for positive (and variance-aversion for negative) experiences: Risk-seeking in the domain of gains? Harvard Business School, 2008.

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Copeland, Laurence S. Inflation, interest rate risk and the variance of common stock prices. Manchester Business School, 1986.

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O'Gorman, Aongus J. Mean-risk analysis: An examination of semivariance as an alternative to the traditional risk measure of variance. University College Dublin, 1994.

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Johnson, D. G. The robustness of mean and variance approximations in pert and risk analysis. Loughborough University Business School, 1997.

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Geyer, Alois. Information, Erwartung und Risiko: Aspekte der Verteilung, Abhängigkeit und Varianz von finanzwirtschaftlichen Zeitreihen. VVF, 1992.

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Holdt, Lesca M., and Daniel Teupser. Genetic background of atherosclerosis and its risk factors. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199656653.003.0002.

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This chapter is concerned with how atherosclerosis risk is modulated by a complex interplay between genetic and environmental risk factors. The contribution of genetics to the variability of atherosclerosis risk is estimated as 50%. Recent genome-wide association studies have led to the identification of over 50 gene variants which modulate atherogenesis. Risk factors for atherosclerosis are also partly genetically determined and some of the variants which play a role in atherogenesis overlap with those modulating its risk factors. However, the current relevance of these findings for clinical

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Penney, Kathryn L., Kyriaki Michailidou, Deanna Alexis Carere, et al. Genetic Epidemiology of Cancer. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0005.

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Chapter 5 reviews epidemiologic studies conducted to identify germline (inherited) susceptibility loci. These studies can involve associations observed within high-risk family pedigrees or in large studies of unrelated individuals. The chapter reviews the methods used to estimate the aggregate contribution of inherited genetic susceptibility and to identify specific genetic loci associated with risk. Although there is considerable variability across cancers, most cancers exhibit familial clustering, driven in part by a small number of known rare variants with large relative risks and a larger

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Merriman, Tony R. The genetic basis of gout. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199668847.003.0040.

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An individual’s risk of gout is determined by a complex relationship between inherited genetic variants and environmental exposures. Genetic variants that control hyperuricaemia and subsequent progression to clinical gout specify pathogenic pathways that could be therapeutically targeted. Genome-wide association studies (GWAS) have provided novel insights into the pathways leading to hyperuricaemia. GWAS have identified the renal uric acid transporter SLC2A9/GLUT9 and the gut excretory molecule ABCG2, which each have very strong genetic effects in the control of urate levels and risk of gout.

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Частини книг з теми "Risk variants"

Pfeiffer, Ruth M., and Mitchell H. Gail. "Risk estimates based on genetic variants and family studies." In Absolute Risk. Chapman and Hall/CRC, 2017. http://dx.doi.org/10.1201/9781315117539-9.

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Song, Yiqing, Cuilin Zhang, Lu Wang, Qi Dai, and Simin Liu. "Magnesium Intake, Genetic Variants, and Diabetes Risk." In Magnesium in Human Health and Disease. Humana Press, 2012. http://dx.doi.org/10.1007/978-1-62703-044-1_6.

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Velaga, Ravi, Masakazu Toi, Nobuko Kawaguchi-Sakita, John R. Benson, and Noriko Senda. "Hereditary Breast Cancer and Pathogenic Germline Variants." In Screening and Risk Reduction Strategies for Breast Cancer. Springer Nature Singapore, 2023. http://dx.doi.org/10.1007/978-981-19-7630-8_3.

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Negi, Archita, and Farshid Hajati. "Analysis of Variants of KNN for Disease Risk Prediction." In Advanced Information Networking and Applications. Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-99619-2_50.

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Pack, Allan I. "Evolving Approaches to Identifying Genetic Risk Variants for Sleep Disorders." In Translational Medicine Research. Springer Netherlands, 2022. http://dx.doi.org/10.1007/978-94-024-2168-2_1.

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Moustafa, Julia Sarah El-Sayed, and Philippe Froguel. "Copy Number Variants and Their Contribution to the Risk of Obesity." In The Genetics of Obesity. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-8642-8_4.

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Wortsman, Ximena, and Camila Ferreira-Wortsman. "Relevant Topographic Anatomy of the Head, Anatomical Variants, and Risk Zones." In Textbook of Dermatologic Ultrasound. Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-031-08736-3_6.

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Sakr, Rita A., and Hassan Ghazal. "Genetic Testing for Cancer Risk in the UAE." In Cancer Care in the United Arab Emirates. Springer Nature Singapore, 2024. http://dx.doi.org/10.1007/978-981-99-6794-0_15.

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AbstractHereditary cancers are estimated to account for 10% of all cancers. Clinical genetics initially provided genetic testing to cancer patients and/or those with a strong family history of cancer. Hereditary cancer gene testing became more widely available as a result of research into inherited genes and the revolutionary development of genetic testing technologies. As a result, testing has been expanded to include medical specialties other than clinical genetics. The increased testing rate resulted in the identification of more patients with pathogenic mutations, but it also resulted in a

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De Timmerman, Romeo, Anne-Sophie Bafort, Sofie Van de Geuchte, Mieke Vandenbroucke, and Stef Slembrouck. "Chapter 5. Formulations of risk and responsibility in COVID-19 contact tracing telephone interactions in Flanders, Belgium." In Risk Discourse and Responsibility. John Benjamins Publishing Company, 2023. http://dx.doi.org/10.1075/pbns.336.05det.

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Government responses to the Covid-19 health crisis are composed of recursively applied stages of risk calculation and management as necessary processes in the containment of outbreaks. One of the most prominent forms of risk management in Flanders was contact tracing. It occurs in three variants: (i) the development and implementation of a smartphone-based contact tracing app, (ii) regionally-organised contact tracing telephone conversations conducted through commercially-contracted call centres, and (iii) home visiting by local field agents of populations who are difficult to reach. This chap

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Anumba, Dilly OC, and Shamanthi M. Jayasooriya. "Prenatal Risk Assessment for Preterm Birth in Low-Resource Settings: Demographics and Obstetric History." In Evidence Based Global Health Manual for Preterm Birth Risk Assessment. Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-031-04462-5_3.

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AbstractMaternal demographics and past obstetric history provide important information regarding the risk of preterm birth. Careful assessment for these factors at pregnancy registration is crucial for preterm birth risk assessment and signposting of care to mitigate preterm birth where possible. Demographic factors evidenced to increase the risk of PTB include extremes of maternal age, black ethnicity, and history of domestic abuse. Obstetric risk factors include a history of previous preterm birth, late miscarriage, stillbirth, cervical surgery, or uterine variants. In an index pregnancy, mu

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Тези доповідей конференцій з теми "Risk variants"

Rahmani, Hossein, Stefan Biffl, Kristof Meixner, David Hoffmann, Arndt Lüder, and Dietmar Winkler. "Business Risk Analysis of Production Variants Considering Technical Dependencies." In 2024 26th International Conference on Business Informatics (CBI). IEEE, 2024. https://doi.org/10.1109/cbi62504.2024.00029.

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Gariso, Ruben, Jo�o P. L. Coutinho, Tiago J. Rato, and Marco S. Reis. "Linear and non-linear convolutional approaches and XAI for spectral data: classification of waste lubricant oils." In The 35th European Symposium on Computer Aided Process Engineering. PSE Press, 2025. https://doi.org/10.69997/sct.103935.

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Waste lubricant oil (WLO) is a hazardous residual that requires proper management, being WLO regeneration the preferred approach. However, regeneration is only viable if the WLO does not coagulate in the equipment. Otherwise, the process needs to be shut down for cleaning and maintenance. To mitigate this risk, a laboratory test is currently used to assess the WLO coagulation potential before it enters the process. This laboratory test is, however, time-consuming, presents several safety risks, and is subjective. To expedite decision-making, process analytics technology (PAT) and machine learn

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Leung, Hareton K. N. "Variants of Risk and Opportunity." In 2010 17th Asia Pacific Software Engineering Conference (APSEC). IEEE, 2010. http://dx.doi.org/10.1109/apsec.2010.52.

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Hunter, David J. "Prediction of disease risk using common genetic variants." In AACR International Conference: Molecular Diagnostics in Cancer Therapeutic Development– Sep 27-30, 2010; Denver, CO. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/diag-10-pl5-2.

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Permuth-Wey, Jennifer, Ya-Yu Tsai, Y. Ann Chen, et al. "Abstract 2835: Mitochondrial genetic variants influence ovarian cancer risk." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-2835.

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Schmitt, Robert, Bjorn Falk, Maximilian Russmann, Christian Brecher, Werner Herfs, and Adam Malik. "Risk management across variants requirements and outlook for an efficient risk assessment of machines." In 2015 First IEEE International Symposium on Systems Engineering (ISSE). IEEE, 2015. http://dx.doi.org/10.1109/syseng.2015.7302758.

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Du, Mengmeng, Shuo Jiao, Stephanie A. Rosse, et al. "Abstract 2190: Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-2190.

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Kelemen, Linda E., Jonathan Tyrer, Catherine M. Phelan, et al. "Abstract 3283: GWAS identifies risk variants for mucinous ovarian carcinoma." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-3283.

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Andavolu, Radhika G., Jean-Luc Cardenas, Ross Shore, et al. "Abstract 1932: Association of genetic variants with prostate cancer risk." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-1932.

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Tingle, Sharna, Danielle Carrick, Sheri Schully, Mindy Clyne, and Stefanie A. Nelson. "Abstract 5572: Tracking the functional analysis of cancer risk variants." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-5572.

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Звіти організацій з теми "Risk variants"

Chang, Bao-Li. Sequence Variants in Estrogen Receptors and Risk for Prostate Cancer. Defense Technical Information Center, 2004. http://dx.doi.org/10.21236/ada425852.

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Murph, Leigh. The Estrogen Receptor and Its Variants as Risk Factors in Breast Cancer. Defense Technical Information Center, 2001. http://dx.doi.org/10.21236/ada405667.

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Tuite, Ashleigh R., David N. Fisman, Ayodele Odutayo, et al. COVID-19 Hospitalizations, ICU Admissions and Deaths Associated with the New Variants of Concern. Ontario COVID-19 Science Advisory Table, 2021. http://dx.doi.org/10.47326/ocsat.2021.02.18.1.0.

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New variants of concern (VOCs) now account for 67% of all Ontario SARS-CoV-2 infections. Compared with early variants of SARS-CoV-2, VOCs are associated with a 63% increased risk of hospitalization, a 103% increased risk of intensive care unit (ICU) admission and a 56% increased risk of death due to COVID-19. VOCs are having a substantial impact on Ontario’s healthcare system. On March 28, 2021, the daily number of new SARS-CoV-2 infections in Ontario reached the daily number of cases observed near the height of the second wave, at the start of the province-wide lockdown, on December 26, 2020.

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Lehman, Donna, and Robin Leach. Assessing the Role of Copy Number Variants in Prostate Cancer Risk and Progression Using a Novel Genomewide Screening Method. Defense Technical Information Center, 2014. http://dx.doi.org/10.21236/ada615419.

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Lehman, Donna, Robin Leach, and August Blackburn. Assessing the Role of Copy Number Variants in Prostate Cancer Risk and Progression Using a Novel Genome-Wide Screening Method. Defense Technical Information Center, 2010. http://dx.doi.org/10.21236/ada542445.

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Lehman, Donna, August Blackburn, and Robin Leach. Assessing the Role of Copy Number Variants in Prostate Cancer Risk and Progression using a Novel Genome-Wide Screening Method. Defense Technical Information Center, 2012. http://dx.doi.org/10.21236/ada568305.

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Lehman, Donna, and Robin Leach. Assessing the Role of Copy Number Variants in Prostate Cancer Risk and Progression Using a Novel Genome-Wide Screening Method. Defense Technical Information Center, 2013. http://dx.doi.org/10.21236/ada594060.

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Lehman, Donna. Assessing the Role of Copy Number Variants in Prostate Cancer Risk and Progression Using a Novel Genome-Wide Screening Method. Defense Technical Information Center, 2011. http://dx.doi.org/10.21236/ada554128.

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Jia, Ziqi, Jiang Wu, Jiaxin Li, Jiaqi Liu, and Xiang Wang. Meta-analysis of breast cancer risk associated with established germline pathogenic variants in breast cancer-predisposition genes in population-based studies. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2021. http://dx.doi.org/10.37766/inplasy2021.2.0017.

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Welch, David, and Gregory Deierlein. Technical Background Report for Structural Analysis and Performance Assessment (PEER-CEA Project). Pacific Earthquake Engineering Research Center, University of California, Berkeley, CA, 2020. http://dx.doi.org/10.55461/yyqh3072.

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This report outlines the development of earthquake damage functions and comparative loss metrics for single-family wood-frame buildings with and without seismic retrofit of vulnerable cripple wall and stem wall conditions. The underlying goal of the study is to quantify the benefits of the seismic retrofit in terms of reduced earthquake damage and repair or reconstruction costs. The earthquake damage and economic losses are evaluated based on the FEMA P-58 methodology, which incorporates detailed building information and analyses to characterize the seismic hazard, structural response, earthqu

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