Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping.

ABSTRACT: Structural variants (SVs) are important contributors to human disease. Their characterization remains however difficult due to their size and association with repetitive regions. Long-read sequencing (LRS) and optical genome mapping (OGM) can aid as their molecules span multiple kilobases and capture SVs in full. In this study, we selected six individuals who presented with unresolved SVs. We applied LRS onto all individuals and OGM to a subset of three complex cases. LRS detected and fully resolved the interrogated SV in all samples. This enabled a precise molecular diagnosis in two individuals. Overall, LRS identified 100% of the junctions at single-basepair level, providing valuable insights into their formation mechanisms without need for additional data sources. Application of OGM add

SUBMITTER: De Clercq G 

PROVIDER: S-EPMC11589705 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature