Article
Haplotype-resolved inversion landscape reveals hotspots of mutational recurrence associated with genomic disorders
2021-12-20
Abstract excerpt
Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation class. By integrating multiple genomic technologies, we discover 729 inversions in 41 human genomes. Approximately 85% of inversions <2 kbp form by twin-priming during L1-retrotransposition; 80% of the larger inversions are balanced and affect twice as many base pairs as CNVs. Balanced inversions show an excess of common varia...
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Identifiers and source
- Literature Corpus work
- 7ea51d93-7976-545f-a223-4a651c32a9f7
- DOI
- 10.1101/2021.12.20.472354