Article
Seqminer2: an efficient tool to query and retrieve genotypes for statistical genetics analyses from biobank scale sequence dataset.
Bioinformatics (Oxford, England) - 8 Dec 2020
Yang Lina, Jiang Shuang, Jiang Bibo, Liu Dajiang J, Zhan Xiaowei
Abstract excerpt
SUMMARY: Here, we present a highly efficient R-package seqminer2 for querying and retrieving sequence variants from biobank scale datasets of millions of individuals and hundreds of millions of genetic variants. Seqminer2 implements a novel variant-based index for querying VCF/BCF files. It improves the speed of query and retrieval by several magnitudes compared to the state-of-the-art tools based upon tabix. It...
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