Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

ConclusionsOur results corroborate that cxSVs cause Mendelian disease, and we recommend their consideration during clinical investigations. We show that resolution of breakpoints can be critical to interpret pathogenicity and present evidence of replication-based mechanisms in cxSV formation.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research
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