Article
Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer.
BMC medical genetics - 6 May 2020
Bobyn Anna, Zarrei Mehdi, Zhu Yuankun, Hoffman Mary, Brenner Darren, Resnick Adam C, Scherer Stephen W, Gallo Marco
Abstract excerpt
BACKGROUND: Pediatric high-grade gliomas (pHGGs) are incurable malignant brain cancers. Clear somatic genetic drivers are difficult to identify in the majority of cases. We hypothesized that this may be due to the existence of germline variants that influence tumor etiology and/or progression and are filtered out using traditional pipelines for somatic mutation calling. METHODS: In this study, we analyzed...
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