Article

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

2022-11-29

Abstract excerpt

<title>Abstract</title> <p>We devised a new method (Chameleolyser) that accurately identifies single nucleotide variants (SNVs), copy number variants and ectopic gene conversion events in duplicated genomic regions using whole-exome sequencing (WES) data. Application to a cohort of 41,755 WES samples yielded 20,432 rare homozygous deletions and 2,529,791 rare SNVs, of which we can show that 338,084 are due to gen...

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Literature Corpus work: 6be5f5ce-515f-514b-a5c4-566c4072d4d9
DOI: 10.21203/rs.3.rs-2302399/v1

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