Article

Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

2020-08-04

Abstract excerpt

Two intriguing forms of genome structural variation (SV) – dispersed duplications, and de novo rearrangements of complex, multi-allelic loci – have long escaped genomic analysis. We describe a new way to find and characterize such variation by utilizing identity-by-descent (IBD) relationships between siblings together with high-precision measurements of segmental copy number. Analyzing whole-genome sequence data f...

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Literature Corpus work: 63de4e30-9e5f-59d5-8b01-9acda472e078
DOI: 10.1101/2020.08.03.235358

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