Clinical application of tumour-in-normal contamination assessment from whole genome sequencing

Abstract The unexpected contamination of normal samples with tumour cells reduces variant detection sensitivity, compromising downstream analyses in canonical tumour-normal analyses. Leveraging whole-genome sequencing data available at Genomics England, we develop a tool for normal sample contaminat...

Full description

Bibliographic Details
Main Authors: Jonathan Mitchell, Salvatore Milite, Jack Bartram, Susan Walker, Nadezda Volkova, Olena Yavorska, Magdalena Zarowiecki, Jane Chalker, Rebecca Thomas, Luca Vago, Alona Sosinsky, Giulio Caravagna
Format: Article
Language:English
Published: Nature Portfolio 2024-01-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-023-44158-2