Article
UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP.
Genomics, proteomics & bioinformatics - 30 May 2025
Tian Shulan, Jenkinson Garrett, Ferrer Alejandro, Yan Huihuang, Morales-Rosado Joel A, Wang Kevin L, Lasho Terra L, Yan Benjamin B, Baheti Saurabh, Olson Janet E, Baughn Linda B, Ding Wei, Slager Susan L, Patnaik Mrinal S, Lazaridis Konstantinos N, Klee Eric W
Abstract excerpt
Clonal hematopoiesis (CH) of indeterminate potential (CHIP), driven by somatic mutations in leukemia-associated genes, confers increased risk of hematologic malignancies, cardiovascular disease, and all-cause mortality. In blood of healthy individuals, small CH clones can expand over time to reach 2% variant allele frequency (VAF), the current threshold for CHIP. Nevertheless, reliable detection of low-VAF CHIP...
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