Analysis-ready VCF at Biobank scale using Zarr.

ABSTRACT:

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) emphasises efficient retrieval of all data for a given variant, but accessing data on a field or sample basis is inefficient. Biobank scale datasets currently available consist of hundreds of thousands of whole genomes and hundreds of terabytes of compressed VCF. Row-wise data storage is fundamentally unsuitable and a more scalable approach is needed.

Results

Zarr is a format for storing multi-dimensional data that is widely used across the sciences, and is ideally suited to massively parallel processing. We present the VCF Zarr specification, an en

SUBMITTER: Czech E 

PROVIDER: S-EPMC11195102 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature