Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation
Author:
Funder
Invitae Corporation
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13073-017-0403-7.pdf
Reference49 articles.
1. ClinVar. 2016. http://www.ncbi.nlm.nih.gov/clinvar/ . Accessed 28 June 2016.
2. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24. doi: 10.1038/gim.2015.30 .
3. Norton N, Robertson PD, Rieder MJ, Zuchner S, Rampersaud E, Martin E, et al. Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circ Cardiovasc Genet. 2012;5(2):167–74. doi: 10.1161/CIRCGENETICS.111.961805 .
4. Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola 2nd J, Simpson A, et al. Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. Am J Hum Genet. 2014;95(4):445–53. doi: 10.1016/j.ajhg.2014.09.001 .
5. Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285–91. doi: 10.1038/nature19057 .
Cited by 196 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency;Orphanet Journal of Rare Diseases;2024-08-21
2. Comparison among different preclinical models derived from the same patient with a non-functional pancreatic neuroendocrine tumor;Human Cell;2024-07-30
3. Metabolic alterations drive inflammatory phenotypes in CHIP-associated heart failure;2024-07-30
4. Toward a universal approach for predicting variant pathogenicity in diverse disease landscapes;Journal of Genetics and Genomics;2024-07
5. Enhanced Detection and Genotyping of Disease-Associated Tandem Repeats Using HMMSTR and Targeted Long-Read Sequencing;2024-05-03
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3