Article
Analysis-ready VCF at Biobank scale using Zarr.
GigaScience - 6 Jan 2025
Czech Eric, Tyler Will, White Tom, Jeffery Ben, Millar Timothy R, Elsworth Benjamin, Guez Jérémy, Hancox Jonny, Karczewski Konrad J, Miles Alistair, Tallman Sam, Unneberg Per, Wojdyla Rafal, Zabad Shadi, Hammerbacher Jeff, Kelleher Jerome
Abstract excerpt
BACKGROUND: Variant Call Format (VCF) is the standard file format for interchanging genetic variation data and associated quality control metrics. The usual row-wise encoding of the VCF data model (either as text or packed binary) emphasizes efficient retrieval of all data for a given variant, but accessing data on a field or sample basis is inefficient. The Biobank-scale datasets currently available consist of...
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