Integrative approach for delineating structural variants using optical genome mapping and short-read sequencing.

Optical genome mapping (OGM) combined with short-read sequencing — complementary SV detection in human genetic disorders

An integrative optical genome mapping (OGM) plus short-read sequencing approach demonstrates complementary SV detection in human genetic disorders. Structural variants represent a significant fraction of pathogenic variants in constitutional genetics but remain incompletely detected by standard NGS approaches. This study shows the added value of OGM for SV detection — particularly for balanced rearrangements and complex SVs — with direct applications in clinical genetic diagnosis.

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OGM (Bionano Genomics) is increasingly being adopted in reference centers as a complement to NGS for complex SVs and balanced rearrangements invisible to NGS. This real-world clinical study strengthens the case for integrating OGM into genetic diagnostic strategies for patients undiagnosed despite NGS.

Clinical impact : 3/3 · Evidence strength : 2/3 · Novelty : 2/2 · Sample size : 1/1 · Journal quality : 0/1 → Total : 8/10