P657: Insights from manual curation of a Genome in a Bottle draft somatic small variant benchmark for a tumor normal pair

Genetics in Medicine Open 2026 Open access

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Authors: Justin Wagner, Jennifer McDaniel, Andrew Scott Liss, Chunlin Xiao, Justin M. Zook
DOI: 10.1016/j.gimo.2026.104147
Cited by: 0

Abstract

The NIST-hosted Genome in a Bottle (GIAB) Consortium develops reference materials, data, and variant benchmarks used to measure performance of human genome sequencing methods. These resources help enable sequencing technology and bioinformatics method development. While GIAB historically focused on germline samples, over the last three years it has characterized a broadly-consented Pancreatic Adenocarcinoma (PDAC) cell line (known as HG008-T) along with matched normal pancreatic (HG008-N-P) and duodenal (HG008-N-D) tissue.

Fields of Study & Subjects

Cancer Genomics and Diagnostics Genomics and Phylogenetic Studies Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104147–104147
Publication date
1 January 2026
Language
EN