Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference33 articles.
1. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls;N Craddock;Nature,2010
2. A map of human genome variation from population-scale sequencing;RM Durbin;Nature,2010
3. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project;E Birney;Nature,2007
4. A method and server for predicting damaging missense mutations;IA Adzhubei;Nat Methods,2010
5. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm;P Kumar;Nature protocols,2009
Cited by 10 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. Deep multiple-instance learning accurately predicts gene haploinsufficiency and deletion pathogenicity;2023-08-31
2. Frequent convergence of mcr-9 and carbapenemase genes in Enterobacter cloacae complex driven by epidemic plasmids and host incompatibility;Emerging Microbes & Infections;2022-08-05
3. Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes;Genetics in Medicine;2020-08
4. Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study;Molecular Psychiatry;2020-07-27
5. First Report of bla VIM-4 - and mcr-9 -Coharboring Enterobacter Species Isolated from a Pediatric Patient;mSphere;2019-10-30
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