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|Title:||Rare-variant collapsing analyses for complex traits: guidelines and applications.|
|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
|Citation:||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.|
|Appears in Collections:||Journal articles|
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