Article

PopDel identifies medium-size deletions jointly in tens of thousands of genomes

2019-08-20

Abstract excerpt

Thousands of genomic structural variants segregate in the human population and can impact phenotypic traits and diseases. Their identification in whole-genome sequence data of large cohorts is a major computational challenge. We describe a novel approach, PopDel, which jointly identifies deletions of about 500 to at least 10,000 bp in length in many genomes together. PopDel scales to tens of thousands of genomes a...

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Literature Corpus work: 3431ce2b-bf15-5117-857d-865eb35f8681
DOI: 10.1101/740225

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