Article

GGTyper: genotyping complex structural variants using short-read sequencing data

2024-03-17

Abstract excerpt

Motivation: Complex structural variants are genomic rearrangements that involve multiple segments of DNA. They contribute to human diversity and have been shown to cause Mendelian disease. Nevertheless, our abilities to analyse complex structural variants are very limited. As opposed to deletions and other canonical types of structural variants (SVs), there are no established tools that have explicitly been design...

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Literature Corpus work: 1b3a75f6-711d-5932-812f-541700d2d075
DOI: 10.1101/2024.03.15.585230

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