Article

SurVIndel2: improving CNVs calling from next-generation sequencing using novel hidden information

2023-04-25

Abstract excerpt

Deletions and tandem duplications (commonly called CNVs) represent the majority of structural variations. They can be identified using short reads, but because they frequently occur in repetitive regions, existing methods fail to detect most of them. This is because CNVs in repetitive regions often do not produce the evidence needed by existing short reads-based callers (split reads, discordant pairs or read depth...

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Literature Corpus work: aa08a3c1-d2e2-57a7-8504-5fcdccfd655b
DOI: 10.1101/2023.04.23.538018

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