Article
Interpretable Active Learning for Pedigree Data Deduplication in Cancer Genetics.
JCO clinical cancer informatics - 1 Mar 2026
Rosito Maria S, Cervantes Aleck E, Hong Christine, Bonner Joseph D, Nehoray Bita, Schwartz Levine Alison, Rosenberg Danna, Anez-Bruzual Isabel, Parmigiani Giovanni, Amos Christopher I, Garber Judy E, Gruber Stephen B, Braun Danielle
Abstract excerpt
PURPOSE: Studying rare genetic conditions often requires multicenter research to gather sufficient data. However, data from multiple institutions may include relatives from the same family enrolled at different sites, increasing the likelihood of duplicate records. This issue is compounded by the use of deidentified data, which limits the direct linkage through personal identifiers. These redundancies can bias...
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