Choice of control tissue impacts designation of germline variants in a cohort of papillary thyroid carcinoma patients
Abstract
•Tumor sequencing is often performed with paired non-tumor samples, allowing distinction of somatic from germline mutations.•Misdesignation of mutation origin has profound impact: screening, prophylactic intervention, clinical trial eligibility.•Even the healthy genome is subject to variation in the course of a lifetime, resulting in heterogeneity (somatic mosaicism).•As a result of somatic mosaicism, choice of non-tumor control tissue alters...
Paper Details
Title
Choice of control tissue impacts designation of germline variants in a cohort of papillary thyroid carcinoma patients
Published Date
Jun 1, 2020
Journal
Volume
31
Issue
6
Pages
815 - 821
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