Article
Echtvar: compressed variant representation for rapid annotation and filtering of SNPs and indels.
Nucleic acids research - 11 Jan 2023
Pedersen Brent S, de Ridder Jeroen
Abstract excerpt
Germline and somatic variants within an individual or cohort are interpreted with information from large cohorts. Annotation with this information becomes a computational bottleneck as population sets grow to terabytes of data. Here, we introduce echtvar, which efficiently encodes population variants and annotation fields into a compressed archive that can be used for rapid variant annotation and filtering. Most...
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