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Article

The Great Genotyper: a graph-based method for population genotyping of small and structural variants.

GigaScience - 6 Jan 2025

Shokrof Moustafa, Abuelanin Mohamed, Brown C Titus, Mansour Tamer A

Abstract excerpt

BACKGROUND: Long-read sequencing (LRS) enables high-quality structural variant (SV) discovery. SV genotypers utilize these precise call sets to improve the recall and precision of genotyping in short-read sequencing (SRS) samples. With the extensive growth in publicly available SRS datasets, it is now possible to calculate accurate population allele frequencies of SVs. However, reprocessing hundreds of terabytes...

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PMID: 41041811
DOI: 10.1093/gigascience/giaf112
PMCID: PMC12491952

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