Rare-variant collapsing analyses for complex traits: guidelines and applications

被引：0
作者：
Gundula Povysil
Slavé Petrovski
Joseph Hostyk
Vimla Aggarwal
Andrew S. Allen
David B. Goldstein
机构：
[1] Institute for Genomic Medicine,Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D
[2] Columbia University Irving Medical Center,Department of Medicine
[3] Columbia University,Department of Biostatistics and Bioinformatics
[4] AstraZeneca,undefined
[5] The University of Melbourne,undefined
[6] Austin Health and Royal Melbourne Hospital,undefined
[7] Duke University,undefined
来源：
Nature Reviews Genetics | 2019年 / 20卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
The first phase of genome-wide association studies (GWAS) assessed the role of common variation in human disease. Advances optimizing and economizing high-throughput sequencing have enabled a second phase of association studies that assess the contribution of rare variation to complex disease in all protein-coding genes. Unlike the early microarray-based studies, sequencing-based studies catalogue the full range of genetic variation, including the evolutionarily youngest forms. Although the experience with common variants helped establish relevant standards for genome-wide studies, the analysis of rare variation introduces several challenges that require novel analysis approaches.
引用
收藏
页码：747 / 759
页数：12
相关论文
共 163 条
  • [1] Visscher PM(2012)Five years of GWAS discovery Am. J. Hum. Genet. 90 7-24
  • [2] Brown MA(2017)An expanded view of complex traits: from polygenic to omnigenic Cell 169 1177-1186
  • [3] McCarthy MI(2009)Common genetic variation and human traits N. Engl. J. Med. 360 1696-1698
  • [4] Yang J(2010)Uncovering the roles of rare variants in common disease through whole-genome sequencing Nat. Rev. Genet. 11 415-425
  • [5] Boyle EA(2012)Rare and common variants: twenty arguments Nat. Rev. Genet. 13 135-145
  • [6] Li YI(2012)Clinical application of exome sequencing in undiagnosed genetic conditions J. Med. Genet. 49 353-361
  • [7] Pritchard JK(2015)Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios Genet. Med. 17 774-781
  • [8] Goldstein DB(2014)Molecular findings among patients referred for clinical whole-exome sequencing JAMA 312 1870-1879
  • [9] Cirulli ET(2014)De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies Am. J. Hum. Genet. 95 360-370
  • [10] Goldstein DB(2015)De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies Science 350 1262-1266
12345678910