OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities.

ABSTRACT: The whole-genome karyotype refers to the sequence of large chromosomal segments comprising an individual's genotype. Karyotype analysis, which includes identifying aneuploidies and structural rearrangements, is essential for understanding genetic risk factors, informing diagnosis and treatment, and guiding genetic counseling in constitutional disorders. The current karyotyping standard relies on microscopic chromosome examination, a complex and expertise-dependent process with megabase-scale resolution. Optical genome mapping (OGM) technology offers an efficient approach to detect large-scale genomic lesions. Here, we introduce OMKar, a computational method that generates virtual karyotypes from OGM data. OMKar integrates structural variants (SVs) and copy number (CN) variants into a break

SUBMITTER: Raeisi Dehkordi S 

PROVIDER: S-EPMC12667390 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature