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Systematic assessment of rare and de novo structural variants in 57 patient-parent trios using optical genome mapping

2026-01-21 genetic and genomic medicine Title + abstract only
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Next-generation sequencing has unraveled the genetic cause for many individuals with a rare disease, but a significant number of individuals remain undiagnosed using standard of care tests. It is anticipated that structural variants (SVs) have not been fully assessed in this context. Here, we performed optical genome mapping (OGM) for 57 trios and prioritized SVs using a two-step approach. First, we systematically identified all de novo SVs, and subsequently we studied all rare inherited SVs. Po...

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