A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases
Author:
Funder
NIHR
Medical Research Council
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference26 articles.
1. The DNA of a nation;Marx;Nature,2015
2. Rare-variant association testing for sequencing data with the sequence kernel association test;Wu;Am. J. Hum. Genet.,2011
3. A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST);Morgenthaler;Mutat. Res.,2007
4. Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism;Ionita-Laza;PLoS Genet.,2014
5. Adaptive combination of P-values for family-based association testing with sequence data;Lin;PLoS ONE,2014
Cited by 30 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. Machine learning in rare disease;Nature Methods;2023-05-29
2. Genetic association analysis of 77,539 genomes reveals rare disease etiologies;Nature Medicine;2023-03
3. Discovering the genetic etiologies of rare diseases in large patient collections;Nature Medicine;2023-03
4. Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score;PLOS Genetics;2022-09-16
5. The Analysis of the Human Megakaryocyte and Platelet Coding Transcriptome in Healthy and Diseased Subjects;International Journal of Molecular Sciences;2022-07-11
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