Littérature scientifique sur le sujet « Targeted gene panels »
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Articles de revues sur le sujet "Targeted gene panels"
Kanygina, A. V., E. I. Sharova, R. I. Sultanov, Y. A. Schelygin, Y. V. Doludin, E. S. Kostryukova et E. V. Generozov. « Targeted gene sequencing panels : applicability for neoantigen profiling of colon and rectal adenocarcinoma ». Biomeditsinskaya Khimiya 64, no 6 (2018) : 517–24. http://dx.doi.org/10.18097/pbmc20186406517.
Texte intégralRomanov, Dmitriy, et Nikolai Skoblikow. « Linkage Disequilibrium in Targeted Sequencing ». Mathematical Biology and Bioinformatics 17, no 2 (22 novembre 2022) : 325–37. http://dx.doi.org/10.17537/2022.17.325.
Texte intégralSantani, Avni, Jill Murrell, Birgit Funke, Zhenming Yu, Madhuri Hegde, Rong Mao, Andrea Ferreira-Gonzalez, Karl V. Voelkerding et Karen E. Weck. « Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases ». Archives of Pathology & ; Laboratory Medicine 141, no 6 (21 mars 2017) : 787–97. http://dx.doi.org/10.5858/arpa.2016-0517-ra.
Texte intégralBhattacharya, Arjun, Alina M. Hamilton, Melissa A. Troester et Michael I. Love. « DeCompress : tissue compartment deconvolution of targeted mRNA expression panels using compressed sensing ». Nucleic Acids Research 49, no 8 (1 février 2021) : e48-e48. http://dx.doi.org/10.1093/nar/gkab031.
Texte intégralAdeboyeje, Gboyega, Eleanor O. Caplan, Yihua Xu, Monica Chase, Sheetal Sheth, Brandon T. Suehs et Nicole Myer. « Abstract 4111 : Trends in the use of broad genomic sequencing-directed therapy among Medicare patients with newly diagnosed advanced cancer in the United States from 2018-2020 : A retrospective analysis from the SEQUENCE study ». Cancer Research 82, no 12_Supplement (15 juin 2022) : 4111. http://dx.doi.org/10.1158/1538-7445.am2022-4111.
Texte intégralBevins, Nicholas, Shulei Sun, Zied Gaieb, John A. Thorson et Sarah S. Murray. « Comparison of commonly used solid tumor targeted gene sequencing panels for estimating tumor mutation burden shows analytical and prognostic concordance within the cancer genome atlas cohort ». Journal for ImmunoTherapy of Cancer 8, no 1 (mars 2020) : e000613. http://dx.doi.org/10.1136/jitc-2020-000613.
Texte intégralGierman, Hinco J., Nikhil Pai, Casey Catasus, Alvin Tam, Monica Labrador, Joseph Donaldson, Mallika Singaraju et al. « A retrospective three-year analysis using real-world data on uptake of broad-based NextGen sequencing panels in community oncology practices. » Journal of Clinical Oncology 38, no 15_suppl (20 mai 2020) : e13668-e13668. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e13668.
Texte intégralBansal, Nidhanjali, Hye-Won Song, Silin Sa, Woodrow E. Lomas, Gisele V. Baracho, Ian Taylor, Stephanie Widmann et Stefanie Mortimer. « Single cell whole transcriptome analysis of disease cells to generate a targeted RNA-sequencing gene panel for the simultaneous analysis of targeted mRNA and protein ». Journal of Immunology 202, no 1_Supplement (1 mai 2019) : 131.35. http://dx.doi.org/10.4049/jimmunol.202.supp.131.35.
Texte intégralWilson, Parker C., Latisha Love-Gregory, Meagan Corliss, Samantha McNulty, Jonathan W. Heusel et Joseph P. Gaut. « Beyond Panel-Based Testing : Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease ». Kidney360 1, no 8 (13 mai 2020) : 772–80. http://dx.doi.org/10.34067/kid.0001342020.
Texte intégralBarbosa-Gouveia, Sofia, María E. Vázquez-Mosquera, Emiliano González-Vioque, José V. Álvarez, Roi Chans, Francisco Laranjeira, Esmeralda Martins, Ana Cristina Ferreira, Alejandro Avila-Alvarez et María L. Couce. « Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center ». Genes 12, no 8 (19 août 2021) : 1262. http://dx.doi.org/10.3390/genes12081262.
Texte intégralThèses sur le sujet "Targeted gene panels"
GROSSI, ALICE. « Development of a diagnostic protocol, mutation search, and genotype-phenotype correlation in haematological and immunological diseases by targeted resequencing using three different gene panels ». Doctoral thesis, Università degli studi di Genova, 2019. http://hdl.handle.net/11567/945312.
Texte intégralKarim, S. Q. « Development of a targeted next-generation sequencing gene panel to investigate recurrent mutations in chronic lymphocytic leukaemia ». Thesis, University of Liverpool, 2016. http://livrepository.liverpool.ac.uk/3004906/.
Texte intégralLeão, Delva Pereira. « Sequenciamento de nova geração : explorando aplicações clínicas de dados de Targeted Gene Panel e Whole Exome Sequencing ». reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2017. http://hdl.handle.net/10183/173625.
Texte intégralNext-generation sequencing (NGS) technologies and its applications are increasingly used in medicine to elucidate the molecular basis of Mendelian diseases. Although it is a powerful research tool, there is still an important transition regarding data analysis between traditional sequencing techniques and NGS. The first part of this work addresses analytical aspects involved on this switch-over, focusing on the Ion Torrent Personal Genome Machine platform. This is a widely used platform for sequencing gene panels, as this application demands lower throughput of data. We present indicators suitable to evaluate quality of sequencing runs and also a strategy based on depth of coverage values to evaluate amplicon performance on different scenarios. On the other hand, NGS enabled large-scale population studies that are changing our understanding about human genetic variations. One of these examples are the so-called silent mutations, that are being implied as causative of human diseases. The second part of this work investigates the pathogenicity of synonymous single nucleotide polymorphisms (sSNP) based on public data obtained from the Exome Aggregation Consortium (ExAC) (exac.broadinstitute.org/) using the software Silent Variant Analysis (SilVA) (compbio.cs.toronto.edu/silva/) and other sources to gather additional information about affected protein domains, mRNA folding and functional consequences aiming to provide a landscape of harmfulness of sSNP on more than 60,000 human exomes. We show that from 1,691,045 synonymous variants a total of 26,034 were classified as pathogenic and by SilVA, with allele frequency lower than 0.05. In silico functional analysis revealed that pathogenic synonymous variants found are involved in important biological process, such as cellular regulation, metabolism and transport. By exposing a scenario of pathogenic synonymous variants on human exomes we conclude that filtering out sSNP on prioritization workflows is reasonable, although in some specific cases sSNP should be considered. Future research on this field will provide a clear picture of such variations on genetic diseases.
Brajadenta, Gara Samara. « Development of a functional assay for CHD7, a protein involved in CHARGE syndrome ». Thesis, Poitiers, 2019. http://www.theses.fr/2019POIT1401/document.
Texte intégralCHARGE syndrome (CS) is a rare genetic disease characterized by numerous congenital abnormalities, mainly caused by de novo alterations of the CHD7 gene. It encodes a chromodomain protein, involved in the ATP-dependent remodeling of chromatin. The vast majority of CHD7 alterations consists in null alleles like deletions, non-sense substitutions or frameshift-causing variations. We report the first molecular diagnosis of an Indonesian CS patient by a targeted NGS (next-generation sequencing) gene panel (CHD7, EFTUD2, and HOXA1). We identified a novel heterozygous nonsense mutation in exon 34 of CHD7 (c.7234G>T or p.Glu2412Ter). Functional analyses to confirm the pathogenicity of CHD7 variants are lacking and urgently needed. Therefore, the aim of this study was to establish a functional test for wild-type (WT) or variants of CHD7 protein found in CS patients. Using an expression vector encoding CHD7, three variants harboring an amino acid substitution and one variant with a five-amino acid insertion were generated via site-directed mutagenesis. Then CHD7 proteins, either wild-type (WT) or variants, were overexpressed in HeLa cell line. Protein expression was highlighted by western blot and immunofluorescence. We then used real-time RT-PCR to study CHD7 functionality by evaluating the transcript amounts of five genes whose expression is regulated by CHD7 according to the literature. These reporter genes are 45S rDNA, SOX4, SOX10, ID2, and MYRF. We observed that, upon WT-CHD7 expression, the reporter gene transcriptions were downregulated, whereas the four variant alleles of CHD7 had no impact. This suggests that these alleles are not polymorphisms because the variant proteins appeared non-functional. Furthermore, we applied our biological assay in SH-SY5Y cell line in which endogenous CHD7 gene was mutated using the CRISPR/Cas9 technique. Then, we observed that when a CHD7 missense variant was expressed, the transcription levels of the five reporter genes were non-significantly different, compared with the cells in which both CHD7 alleles were knocked-out. Therefore, the studied variants can be considered as disease-causing of CS
Cioppi, Francesca. « Genetic diagnostic yield of rare endocrine diseases through Next-Generation Sequencing : our-7-year experience based on targeted gene panels ». Doctoral thesis, 2022. http://hdl.handle.net/2158/1263211.
Texte intégralReis, Cláudia Alexandra Sousa. « Genetic hearing loss : GJB2 gene and a targeted-gene panel analysis ». Master's thesis, 2020. https://hdl.handle.net/10216/128776.
Texte intégralSensorineural hearing (SNHL) loss is one the most common congenital sensory impairments, affecting approximately 1 in 500-1000 newborns. About 60% of early-onset hearing loss cases are due to genetic causes, of which 70% are non-syndromic. Nonsyndromic SNHL is inherited in an autosomal recessive trait in 80%, but it can also be transmitted in an autosomal dominant (15-20%), X-linked (2-3%) or mitochondrial (1%) patterns. Sequence variations at the GJB2 locus account for up to 50% of cases of nonsyndromic SNHL in several populations. Although the pathogenic role has been clearly established for several GJB2 sequence variations, it remains controversial for some less common variants. An important tool for the classification of their pathogenicity is the assessment of their frequency in a healthy population. It must be remembered that the elucidation of the pathogenic role of each variant is of paramount importance in a familial genetic counselling. To our knowledge, only two GJB2 variants have their prevalence in a Portuguese community sample estimated: Gly12Valfs*2 (35delG) and Met34Thr. In this dissertation, we report the prevalence of the less common variants of the GJB2 gene in a Portuguese sample. Despite the fact that GJB2 mutations are the main cause of nonsyndromic SNHL, more than 100 hearing loss related genes have been identified to date. The extreme genetic heterogeneity of SNHL makes genetic diagnosis based on gene-by-gene Sanger sequencing very laborious, expensive and time-consuming. As a technology of high throughput, next-generation sequencing (NGS), allows for the routine sequencing of a large number of genes per patient in a single, fast and cost-effective experiment. NGS technologies are already broadly used in the investigation setting. More recently, emerged its utilization as a diagnostic tool. Therefore, objectifying NGS diagnostic utility when applied to a clinical context is necessary. In this dissertation, we evaluate the diagnostic yield of NGS targeting a panel of several genes related to hearing loss in a Portuguese sample.
Reis, Cláudia Alexandra Sousa. « Genetic hearing loss : GJB2 gene and a targeted-gene panel analysis ». Dissertação, 2020. https://hdl.handle.net/10216/128776.
Texte intégralSensorineural hearing (SNHL) loss is one the most common congenital sensory impairments, affecting approximately 1 in 500-1000 newborns. About 60% of early-onset hearing loss cases are due to genetic causes, of which 70% are non-syndromic. Nonsyndromic SNHL is inherited in an autosomal recessive trait in 80%, but it can also be transmitted in an autosomal dominant (15-20%), X-linked (2-3%) or mitochondrial (1%) patterns. Sequence variations at the GJB2 locus account for up to 50% of cases of nonsyndromic SNHL in several populations. Although the pathogenic role has been clearly established for several GJB2 sequence variations, it remains controversial for some less common variants. An important tool for the classification of their pathogenicity is the assessment of their frequency in a healthy population. It must be remembered that the elucidation of the pathogenic role of each variant is of paramount importance in a familial genetic counselling. To our knowledge, only two GJB2 variants have their prevalence in a Portuguese community sample estimated: Gly12Valfs*2 (35delG) and Met34Thr. In this dissertation, we report the prevalence of the less common variants of the GJB2 gene in a Portuguese sample. Despite the fact that GJB2 mutations are the main cause of nonsyndromic SNHL, more than 100 hearing loss related genes have been identified to date. The extreme genetic heterogeneity of SNHL makes genetic diagnosis based on gene-by-gene Sanger sequencing very laborious, expensive and time-consuming. As a technology of high throughput, next-generation sequencing (NGS), allows for the routine sequencing of a large number of genes per patient in a single, fast and cost-effective experiment. NGS technologies are already broadly used in the investigation setting. More recently, emerged its utilization as a diagnostic tool. Therefore, objectifying NGS diagnostic utility when applied to a clinical context is necessary. In this dissertation, we evaluate the diagnostic yield of NGS targeting a panel of several genes related to hearing loss in a Portuguese sample.
Galatolo, Daniele. « An integrated, next-generation approach to identify new genes and new pathways in hereditary ataxias ». Doctoral thesis, 2020. http://hdl.handle.net/2158/1188709.
Texte intégralChapitres de livres sur le sujet "Targeted gene panels"
Clark, Robin D., et Cynthia J. Curry. « Hypotonia ». Dans Genetic Consultations in the Newborn, sous la direction de Robin D. Clark et Cynthia J. Curry, 3–10. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199990993.003.0001.
Texte intégral« Targeted Hotspot Gene Panel Table ». Dans Diagnostic Pathology : Molecular Oncology, 4–22. Elsevier, 2016. http://dx.doi.org/10.1016/b978-0-323-37678-5.50048-7.
Texte intégral« Targeted Hotspot Gene Panel Using Massively Parallel Sequencing (Next Generation Sequencing) ». Dans Diagnostic Pathology : Molecular Oncology, 4–20. Elsevier, 2016. http://dx.doi.org/10.1016/b978-0-323-37678-5.50047-5.
Texte intégralClark, Robin D., et Cynthia J. Curry. « Intrauterine Growth Restriction ». Dans Genetic Consultations in the Newborn, sous la direction de Robin D. Clark et Cynthia J. Curry, 11–16. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199990993.003.0002.
Texte intégralHolt, Jon Patrick. « Type Five and Beyond ». Dans Exploring Comics and Graphic Novels in the Classroom, 46–63. IGI Global, 2022. http://dx.doi.org/10.4018/978-1-6684-4313-2.ch003.
Texte intégralFlament, Martine F., et Philippe Robaey. « Obsessive–compulsive disorder and tics in children and adolescents ». Dans New Oxford Textbook of Psychiatry, 1680–93. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199696758.003.0219.
Texte intégralActes de conférences sur le sujet "Targeted gene panels"
Barry, Andrew John, Kruti M. Patel, Amy B. Emerman, Scott Adams, Sarah Bowman, Evan Mauceli, Fiona Stewart et al. « Abstract 3416 : Customizable gene panels overcome challenges associated with targeted resequencing ». Dans Proceedings : AACR Annual Meeting 2018 ; April 14-18, 2018 ; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-3416.
Texte intégralSpayd, Katherine J., Irina Vasenkova, Tatiana Shvetsova, Randall C. Bachmeyer, Richard M. Myers, D. Troy Moore et Katherine E. Varley. « Abstract LB-412 : TargetRich™ cancer gene panels : targeted next generation sequencing in cancer samples ». 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-lb-412.
Texte intégralKermani, Bahram G., Evans L. Roberts, Theresa A. Boyle et Anthony M. Magliocco. « Abstract 4280 : Improving the sensitivity of wide targeted cancer gene panels via novel genome analysis tools ». Dans Proceedings : AACR Annual Meeting 2018 ; April 14-18, 2018 ; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-4280.
Texte intégralHelman, Elena, Michael James Clark, Sean Boyle, Richard Chen, Shujun Luo, Christian Haudenschild, Jason Harris, Gabor Bartha, Deanna Church et John West. « Abstract A2-39 : Augmented targeted NGS in cancer diagnostics : Comparing gene panels and whole exome sequencing for accurate detection of driver mutations ». Dans Abstracts : AACR Special Conference : Translation of the Cancer Genome ; February 7-9, 2015 ; San Francisco, CA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.transcagen-a2-39.
Texte intégralSjöström, M., J. Staaf, P. Edén, F. Wärnberg, J. Bergh, P. Malmström, M. Fernö, E. Niméus et I. Fredriksson. « Abstract P4-09-08 : A targeted breast cancer radiosensitivity gene expression panel ». Dans Abstracts : 2017 San Antonio Breast Cancer Symposium ; December 5-9, 2017 ; San Antonio, Texas. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.sabcs17-p4-09-08.
Texte intégralPankov, Aleksandr, Yongming Sun, Yuan-Chieh Ku, Warren Tom, Jianping Zheng, Timothy Looney, Janice Au-Yong, Fiona Hyland et Ann Mongan. « Abstract B17 : Validation of targeted gene expression profiling panel for identifying biomarker signatures of immunotherapy responders ». Dans Abstracts : AACR Special Conference on Tumor Immunology and Immunotherapy ; October 20-23, 2016 ; Boston, MA. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/2326-6074.tumimm16-b17.
Texte intégralCarvalho, Tamyres MIngorance, Tayana Schultz Jukoski, Guillermo Ortiz Brasil, Flavia Kuroda et Enilze M. S. F. Ribeiro. « EXPRESSION OF miRNAS SUGGESTS A POTENTIAL ROLE IN BREAST CANCER ». Dans Scientifc papers of XXIII Brazilian Breast Congress - 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s1050.
Texte intégralChen, Peilin, Jaibiao Gong, David Wang, Devin Do, Lianne McLean et Tom Goralski. « Abstract 4651 : Development of a targeted NGS panel for solid tumor actionable gene targets using multiplex PCR-based enrichment in an integrated fluidic circuit ». Dans Proceedings : AACR Annual Meeting 2018 ; April 14-18, 2018 ; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-4651.
Texte intégralOades, Kahuku, Lien Vo, Jerry Lee, Mark Landers, Yipeng Wang, Byung-In Lee et Joseph Monforte. « Abstract 4143 : Targeted RNA sequencing for expression analysis of breast cancer patient samples using a biomarker gene panel. » Dans 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.am2013-4143.
Texte intégralCosta, Jose, Joana Reis, Margarida Fernandes, Rafaela Silva, Luis Cirnes, Ruchi Chaudhary, Fatima Carneiro et Jose C. Machado. « Abstract 1712 : Assessing tumor mutation load using an NGS-based, routine-friendly target gene panel ». Dans Proceedings : AACR Annual Meeting 2018 ; April 14-18, 2018 ; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-1712.
Texte intégralRapports d'organisations sur le sujet "Targeted gene panels"
Lers, Amnon, et Pamela J. Green. Analysis of Small RNAs Associated with Plant Senescence. United States Department of Agriculture, mars 2013. http://dx.doi.org/10.32747/2013.7593393.bard.
Texte intégralShpigel, Nahum, Raul Barletta, Ilan Rosenshine et Marcelo Chaffer. Identification and characterization of Mycobacterium paratuberculosis virulence genes expressed in vivo by negative selection. United States Department of Agriculture, janvier 2004. http://dx.doi.org/10.32747/2004.7696510.bard.
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