BGT: efficient and flexible genotype query across many samples

Heng Li
<span title="2015-10-24">2015</span> <i title="Oxford University Press (OUP)"> <a target="_blank" rel="noopener" href="https://fatcat.wiki/container/wmo54ba2jnemdingjj4fl3736a" style="color: black;">Bioinformatics</a> </i> &nbsp;
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
<span class="external-identifiers"> <a target="_blank" rel="external noopener noreferrer" href="https://doi.org/10.1093/bioinformatics/btv613">doi:10.1093/bioinformatics/btv613</a> <a target="_blank" rel="external noopener" href="https://www.ncbi.nlm.nih.gov/pubmed/26500154">pmid:26500154</a> <a target="_blank" rel="external noopener" href="https://pubmed.ncbi.nlm.nih.gov/PMC5963361/">pmcid:PMC5963361</a> <a target="_blank" rel="external noopener" href="https://fatcat.wiki/release/fzsumximy5frrlv7npbssjzpsi">fatcat:fzsumximy5frrlv7npbssjzpsi</a> </span>
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