Chromosomal Structural Abnormality Diagnosis by Homologous Similarity
Published in KDD, 2024
Structural chromosome abnormalities are difficult to identify because chromosome morphology varies and subtle defects require expert comparison. HomNet follows the diagnostic principle that normal homologous chromosomes should have matching structures: it adaptively aligns homologous pairs, models their differences, and aggregates evidence across multiple pairs to reduce noise and detect structural abnormalities on real clinical data.
Recommended citation: Juren Li, Fanzhe Fu, Ran Wei, Yifei Sun, Zeyu Lai, Ning Song, Xin Chen, and Yang Yang. Chromosomal Structural Abnormality Diagnosis by Homologous Similarity. KDD 2024.
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