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Title: Rare-variant collapsing analyses for complex traits: guidelines and applications.
Austin Authors: Povysil, Gundula;Petrovski, Slavé;Hostyk, Joseph;Aggarwal, Vimla;Allen, Andrew S;Goldstein, David B
Affiliation: Institute for Genomic Medicine, Columbia University Irving Medical Center, Columbia University, New York, NY, USA
Department of Medicine, The University of Melbourne, Royal Melbourne Hospital, Melbourne, Victoria, Australia
Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK
Department of Biostatistics and Bioinformatics, Duke University, Durham, NC, USA
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Issue Date: 11-Oct-2019 2019-10-11
Publication information: Nature reviews. Genetics 2019; 20(12): 747-759
Abstract: 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.
DOI: 10.1038/s41576-019-0177-4
ORCID: 0000-0002-1527-961X
PubMed URL: 31605095
Type: Journal Article
Appears in Collections:Journal articles

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