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BCFtools/liftover: an accurate and comprehensive tool to convert genetic variants across genome assemblies.

Bioinformatics (Oxford, England) - 2 Jan 2024

Genovese Giulio, Rockweiler Nicole B, Gorman Bryan R, Bigdeli Tim B, Pato Michelle T, Pato Carlos N, Ichihara Kiku, McCarroll Steven A

Abstract excerpt

MOTIVATION: Many genetics studies report results tied to genomic coordinates of a legacy genome assembly. However, as assemblies are updated and improved, researchers are faced with either realigning raw sequence data using the updated coordinate system or converting legacy datasets to the updated coordinate system to be able to combine results with newer datasets. Currently available tools to perform the...

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PMID: 38261650
DOI: 10.1093/bioinformatics/btae038
PMCID: PMC10832354

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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