42. Automated deep aberration detection from chromosome karyotype images

Chromosome analysis is essential for diagnosing genetic disorders. For hematologic malignancies, identification of somatic clonal aberrations by karyotype analysis remains the standard of care, with the advantage to identify global genomic aberrations at a single-cell basis. However, karyotyping is costly and time-consuming because of the largely manual process and the expertise required in identifying and annotating aberrations. Efforts to automate karyotype analysis to date fell short in aberration detection.

Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Min Fang, Zahra Shamsi, Drew Bryant, Jacob Wilson, Xiaoyu Qu, Avinava Dubey, Konik Kothari, Mostafa Dehghani, Mariya Chavarha, Valerii Likhosherstov, Brian Williams, Michael Frumkin, Fred Appelbaum, Krzysztof Choromanski, Ali Bashir Source Type: research