Publication Date

7-16-2025

Journal

Scientific Data

DOI

10.1038/s41597-025-05438-2

PMID

40670386

PMCID

PMC12267650

PubMedCentral® Posted Date

7-16-2025

PubMedCentral® Full Text Version

Post-print

Abstract

The Genome in a Bottle Consortium (GIAB), hosted by the National Institute of Standards and Technology (NIST), is developing new matched tumor-normal samples, the first explicitly consented for public dissemination of genomic data and cell lines. Here, we describe a comprehensive genomic dataset from the first individual, HG008, including DNA from an adherent, epithelial-like pancreatic ductal adenocarcinoma (PDAC) tumor cell line and matched normal cells from duodenal and pancreatic tissues. Data for the tumor-normal matched samples comes from seventeen distinct state-of-the-art whole genome measurement technologies, including high depth short and long-read bulk whole genome sequencing (WGS), single cell WGS, Hi-C, and karyotyping. These data will be used by the GIAB Consortium to develop matched tumor-normal benchmarks for somatic variant detection. We expect these data to facilitate innovation for whole genome measurement technologies, de novo assembly of tumor and normal genomes, and bioinformatic tools to identify small and structural somatic variants. This first-of-its-kind broadly consented open-access resource will facilitate further understanding of sequencing methods used for cancer biology.

Keywords

Humans, Whole Genome Sequencing, Genome, Human, Pancreatic Neoplasms, Carcinoma, Pancreatic Ductal, Cell Line, Tumor

Published Open-Access

yes

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