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Fast, accurate, and racially unbiased pan-cancer tumor-only variant calling with tabular machine learning

7 Jan 2023

Abstract excerpt

Abstract Accurately identifying somatic mutations is essential for precision oncology and crucial for calculating tumor-mutational burden (TMB), an important predictor of response to immunotherapy. For tumor-only variant calling (i.e., when the cancer biopsy but not the patient’s normal tissue sample is sequenced), accurately distinguishing somatic mutations from germline variants is a challenging problem that,...

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PMID: 36611079
DOI: 10.1038/s41698-022-00340-1

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