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

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Niehus, Sebastian ; Jónsson, Hákon ; Schönberger, Janina ; Björnsson, Eythór ; Beyter, Doruk ; Eggertsson, Hannes P. ; Sulem, Patrick ; Stefánsson, Kári ; Halldórsson, Bjarni V. ; Kehr, Birte
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Date of publication of this fulltext: 15 Jul 2021 17:45


Thousands of genomic structural variants (SVs) 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. Most current approaches identify SVs in single genomes and afterwards merge the identified variants into a joint call set across many genomes. We describe the approach ...


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