Genotyping structural variants in human cohorts using pangenome graphs

Abstract

High-quality structural variants have been discovered by long-read sequencing technologies across a few genomes. We use pangenome graphs to aggregate this information and genotype those variants accurately in short-read datasets, for example for population genetics studies or testing for their association with phenotypes.

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Voice of the Researcher
Location
Genomics Institute, UC Santa Cruz, CA, USA
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