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

2024-07-05 genetic and genomic medicine Title + abstract only
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1Long-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 hundreds of terabytes of raw SRS data to genotype new variants is impractical for populatio...

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