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

URN to cite this document:: urn:nbn:de:bvb:355-epub-463852
DOI to cite this document:: 10.5283/epub.46385

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

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Abstract

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 ...