Article

Echtvar: Compressed variant representation for rapid annotation and filtering of SNPs and indels

2022-04-15

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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Literature Corpus work: 539a0749-bbff-50b3-bf9b-76e3e68e7742
DOI: 10.1101/2022.04.15.488439

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