Settling the score: variant prioritization and Mendelian disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg.2017.52.pdf
Reference119 articles.
1. Bamshad, M. J. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12, 745–755 (2011).
2. Chong, J. X. et al. The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. Am. J. Hum. Genet. 97, 199–215 (2015). This review summarizes findings from the study of more than 8,000 families with Mendelian disease phenotypes by the Centers for Mendelian Genomics.
3. The 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature 526, 68–74 (2015). By sequencing the genomes of more than 2,500 individuals from diverse world ancestries, this study provides the first genome-wide map of both common and rare human genetic variation.
4. Lek, M. et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291 (2016). The ExAC-integrated exome sequencing data from 60,706 individuals provides an invaluable reference data set of genetic variation in protein-coding genes. Assessing variant allele frequencies in ExAC facilitates the interpretation of candidate variants observed in Mendelian disease families.
5. Cooper, G. M. & Shendure, J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat. Rev. Genet. 12, 628–640 (2011).
Cited by 214 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. Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic testing;Advances in Rheumatology;2024-08-14
2. Missing genetic diversity impacts variant prioritisation for rare disorders;2024-08-14
3. Meta-learning in Healthcare: A Survey;SN Computer Science;2024-08-12
4. PHACTboost: A Phylogeny-Aware Pathogenicity Predictor for Missense Mutations via Boosting;Molecular Biology and Evolution;2024-06-27
5. Understanding the heterogeneous performance of variant effect predictors across human protein-coding genes;2024-06-14
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