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BGT: efficient and flexible genotype query across many samples

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arxiv 1506.08452 v2 pith:AZ46STAQ submitted 2015-06-28 q-bio.GN

BGT: efficient and flexible genotype query across many samples

classification q-bio.GN
keywords acrosssamplesefficientgenotypesmillionqueryapplicationavailability
verification ladder T0 review T1 audit T2 compute T3 formal T4 reserved
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Summary: BGT is a compact format, a fast command line tool and a simple web application for efficient and convenient query of whole-genome genotypes and frequencies across tens to hundreds of thousands of samples. On real data, it encodes the haplotypes of 32,488 samples across 39.2 million SNPs into a 7.4GB database and decodes a couple of hundred million genotypes per CPU second. The high performance enables real-time responses to complex queries. Availability and implementation: https://github.com/lh3/bgt Contact: hengli@broadinstitute.org

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