Article

A germline and somatic mutation sorting (GeMSort) algorithm for extracting presumed germline pathogenic variants in liquid genomic profiling: Insights from Database of Center for Cancer Genomics and Advanced Therapeutics (C-CAT)

2025-05-31

Abstract excerpt

Liquid biopsy comprehensive genomic profiling (LB-CGP) testing is performed on circulating tumor DNA to detect tumor recurrence, predict prognosis, and select therapeutic agents. Pathogenic variants of germline origin in genes associated with hereditary tumor syndrome (HTS) can be simultaneously detected by CGP testing. Nonetheless, it is often challenging to differentiate whether the variants are of somatic or ge...

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Literature Corpus work: eb4533b5-c9a9-546a-b1da-1fd5d3e0c745
DOI: 10.1101/2025.05.29.25327892

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