A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency

202158 citationsJournal Articlegold Open Access

Authors

Wendell Jones · Q2 Solutions (United States)

Binsheng Gong · National Center for Toxicological Research

Natalia Novoradovskaya · Agilent Technologies (United States)

Dan Li · National Center for Toxicological Research

Rebecca Kusko · Immuneering (United States)

Todd Richmond

Donald J. Johann · Winthrop Rockefeller Foundation

Abstract

These new reference samples and their admixtures provide superior capability for performing oncopanel quality control, analytical accuracy, and validation for small to large oncopanels and liquid biopsy assays.

Topics & Keywords

Cancer Genomics and Diagnostics BRCA gene mutations in cancer Genomics and Rare Diseases

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Genome biology

Volume 22, Issue 1, pp. 111-111

DOI: 10.1186/s13059-021-02316-z

Field-Weighted Citation Impact: 4.28