Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

作者: Robert E Handsaker , Joshua M Korn , James Nemesh , Steven A McCarroll

DOI: 10.1038/NG.768

关键词:

摘要: Accurate and complete analysis of genome variation in large populations will be required to understand the role complex disease. We present an analytical framework for characterizing deletion polymorphism using sequence data that are distributed across hundreds or thousands genomes. Our approach uses population-level concepts reinterpret technical features often reflect structural variation. In 1000 Genomes Project pilot, this identified 168 genomes (sequenced at 4 × average coverage) with sensitivity specificity unmatched by other algorithms. also describe a way determine allelic state genotype each genome; used type 13,826 polymorphisms (48-995,664 bp) high accuracy populations. These methods offer relate disease

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