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
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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.
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页码：747 / 759
页数：12
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