Article

The Great Genotyper: A Graph-Based Method for Population Genotyping of Small and Structural Variants

2024-07-05

Abstract excerpt

1 Long-read sequencing (LRS) enables variant calling of high-quality structural variants (SVs). Genotypers of SVs utilize these precise call sets to increase the recall and precision of genotyping in short-read sequencing (SRS) samples. With the extensive growth in availabilty of SRS datasets in recent years, we should be able to calculate accurate population allele frequencies of SV. However, reprocessing hundred...

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Literature Corpus work: ba50e284-31bb-50e9-93ca-da0df40e95ae
DOI: 10.1101/2024.07.04.24309921

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