A method for calculating probabilities of fitness consequences for point mutations across the human genome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng.3196.pdf
Reference54 articles.
1. Mardis, E.R. A decade's perspective on DNA sequencing technology. Nature 470, 198–203 (2011).
2. Wold, B. & Myers, R.M. Sequence census methods for functional genomics. Nat. Methods 5, 19–21 (2008).
3. ENCODE Project Consortium. An integrated encyclopedia of DNA elements in the human genome. Nature 489, 57–74 (2012).
4. Shen, Y. et al. A map of the cis-regulatory sequences in the mouse genome. Nature 488, 116–120 (2012).
5. Neph, S. et al. An expansive human regulatory lexicon encoded in transcription factor footprints. Nature 489, 83–90 (2012).
Cited by 238 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. INDELpred: Improving the prediction and interpretation of indel pathogenicity within the clinical genome;Human Genetics and Genomics Advances;2024-10
2. Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors;Human Genomics;2024-08-28
3. Assessing predictions on fitness effects of missense variants in HMBS in CAGI6;Human Genetics;2024-08-07
4. Stratifying variant deleteriousness and trait-modulating effect under human recent adaptation;2024-07-17
5. A New Era in Missense Variant Analysis: Statistical Insights and the Introduction of VAMPP-Score for Pathogenicity Assessment;2024-07-13
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