VAAST 2.0: Improved Variant Classification and Disease‐Gene Identification Using a Conservation‐Controlled Amino Acid Substitution Matrix-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

VAAST 2.0: Improved Variant Classification and Disease‐Gene Identification Using a Conservation‐Controlled Amino Acid Substitution Matrix

Published:2013-07-08 Issue:6 Volume:37 Page:622-634
ISSN:0741-0395
Container-title:Genetic Epidemiology
language:en
Short-container-title:Genet. Epidemiol.

Author:

Hu Hao¹,Huff Chad D.¹,Moore Barry²,Flygare Steven²,Reese Martin G.³,Yandell Mark²

Affiliation:

1. Department of Epidemiology The University of Texas M.D. Anderson Cancer Center Houston Texas

2. Department of Human Genetics, Eccles Institute of Human Genetics University of Utah School of Medicine Salt Lake City Utah

3. Omicia, Inc Emeryville California

Publisher

Wiley

Subject

Genetics (clinical),Epidemiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/gepi.21743

Reference31 articles.

1. A method and server for predicting damaging missense mutations

2. A map of human genome variation from population-scale sequencing

3. The human gene mutation database

4. Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

5. A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes

Cited by 124 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. Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors;Human Genomics;2024-08-28

2. Maternal genetic variants in kinesin motor domains prematurely increase egg aneuploidy;2024-07-05

3. Statistical methods for assessing the effects of de novo variants on birth defects;Human Genomics;2024-03-14

4. Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease;Communications Medicine;2023-09-27

5. CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome;Human Genetics;2023-03-16

同舟云学术

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