Article
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies.
Nature genetics - 20 May 2012
Pasaniuc Bogdan, Rohland Nadin, McLaren Paul J, Garimella Kiran, Zaitlen Noah, Li Heng, Gupta Namrata, Neale Benjamin M, Daly Mark J, Sklar Pamela, Sullivan Patrick F, Bergen Sarah, Moran Jennifer L, Hultman Christina M, Lichtenstein Paul, Magnusson Patrik, Purcell Shaun M, Haas David W, Liang Liming, Sunyaev Shamil, Patterson Nick, de Bakker Paul I W, Reich David, Price Alkes L
Abstract excerpt
Genome-wide association studies (GWAS) have proven to be a powerful method to identify common genetic variants contributing to susceptibility to common diseases. Here, we show that extremely low-coverage sequencing (0.1-0.5×) captures almost as much of the common (>5%) and low-frequency (1-5%) variation across the genome as SNP arrays. As an empirical demonstration, we show that genome-wide SNP genotypes can be...
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