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Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls.

NATURE BIOTECHNOLOGY, no. 3 (2014): 246-251

被引用417|浏览8
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摘要

Clinical adoption of human genome sequencing requires methods that output genotypes with known accuracy at millions or billions of positions across a genome. Because of substantial discordance among calls made by existing sequencing methods and algorithms, there is a need for a highly accurate set of genotypes across a genome that can be ...更多

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