Article

OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities

2025-02-14

Abstract excerpt

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 chromo...

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Literature Corpus work: 4f525387-b9fc-5c1a-89cc-2aa4a2941dec
DOI: 10.1101/2025.02.13.25322211

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