Article

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

2026-01-21

Abstract excerpt

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...

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Literature Corpus work: 6ca51464-99f3-5d9f-a45c-7a93aeeb3716
DOI: 10.64898/2026.01.16.26344264

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