Optical Genome Mapping in Routine Human Genetic Diagnostics-Its Advantages and Limitations.

ABSTRACT: In recent years, optical genome mapping (OGM) has developed into a highly promising method of detecting large-scale structural variants in human genomes. It is capable of detecting structural variants considered difficult to detect by other current methods. Hence, it promises to be feasible as a first-line diagnostic tool, permitting insight into a new realm of previously unknown variants. However, due to its novelty, little experience with OGM is available to infer best practices for its application or to clarify which features cannot be detected. In this study, we used the Saphyr system (Bionano Genomics, San Diego, CA, USA), to explore its capabilities in human genetic diagnostics. To this end, we tested 14 DNA samples to confirm a total of 14 different structural or numerical chromosom

SUBMITTER: Dremsek P 

PROVIDER: S-EPMC8701374 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature