Files and links (1)
Published, Version of Record (VoR)CC BY V4.0, Open
Journal article
Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair
Scientific data, v 12(1), 1195
16 Jul 2025
PMID: 40670386
Featured in Collection : UN Sustainable Development Goals @ Drexel
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.
Metrics
3 Record Views
Details
- Title
- Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair
- Creators
- Jennifer H. McDaniel - National Institute of Standards and TechnologyVaidehi Patel - National Institute of Standards and TechnologyNathan D. Olson - National Institute of Standards and TechnologyHua-Jun He - Material Measurement LaboratoryZhiyong He - Material Measurement LaboratoryKenneth D. Cole - National Institute of Standards and TechnologyAlexander A. Gooden - Material Measurement LaboratoryAnthony Schmitt - Arima GenomicsKristin Sikkink - Arima GenomicsFritz J. Sedlazeck - Baylor College of MedicineHarsha Doddapaneni - Baylor College of MedicineShalini N. Jhangiani - Baylor College of MedicineDonna M. Muzny - Baylor College of MedicineMarie-Claude Gingras - Baylor College of MedicineHeer Mehta - Baylor College of MedicineSairam Behera - Baylor College of MedicineLuis F. Paulin - Baylor College of MedicineAlex R. Hastie - BioNano GenomicsHung-Chun Yu - BioNano GenomicsVictor Weigman - MeridianAlison Rojas - MeridianKatie Kennedy - MeridianJamie Remington - MeridianIsai Salas-González - MeridianMitch Sudkamp - Applications Development Laboratory, Element Biosciences, 10055 Barnes Canyon RdKelly Wiseman - Applications Development Laboratory, Element Biosciences, 10055 Barnes Canyon RdBryan R. Lajoie - Applications Development Laboratory, Element Biosciences, 10055 Barnes Canyon RdShawn Levy - Applications Development Laboratory, Element Biosciences, 10055 Barnes Canyon RdMiten Jain - Northeastern UniversityStuart Akeson - Northeastern UniversityGiuseppe Narzisi - New York Genome CenterZoe Steinsnyder - New York Genome CenterCatherine Reeves - New York Genome CenterJennifer Shelton - New York Genome CenterSarah B. Kingan - Pacific BiosciencesChristine Lambert - Pacific BiosciencesPrimo Baybayan - Pacific BiosciencesAaron M. Wenger - Pacific BiosciencesIan J. McLaughlin - Pacific BiosciencesAaron Adamson - Pacific BiosciencesChristopher Kingsley - Pacific BiosciencesMelanie Wescott - Pacific BiosciencesYoung Kim - Pacific BiosciencesBenedict Paten - University of California, Santa CruzJimin Park - University of California, Santa CruzIvo Violich - University of California, Santa CruzKaren H. Miga - University of California, Santa CruzJoshua Gardner - University of California, Santa CruzBrandy McNulty - University of California, Santa CruzGail L. Rosen - Drexel UniversityRajiv McCoy - Johns Hopkins UniversityFrancesco Brundu - IlluminaErfan Sayyari - IlluminaKonrad Scheffler - IlluminaSean Truong - IlluminaSeverine Catreux - IlluminaLesley Chapman Hannah - National Cancer InstituteDoron Lipson - GenomicsHila Benjamin - GenomicsNika Iremadze - GenomicsIlya Soifer - GenomicsGat Krieger - GenomicsStephen Eacker - ID GenomicsMary Wood - ID GenomicsErin Cross - KromaTiDGreg Husar - KromaTiDStephen Gross - KromaTiDMichael Vernich - KromaTiDMikhail Kolmogorov - National Institutes of HealthTanveer Ahmad - National Institutes of HealthAyse G. Keskus - National Institutes of HealthAsher Bryant - National Institutes of HealthFrancoise Thibaud-Nissen - National Center for Biotechnology InformationJonathan Trow - National Center for Biotechnology InformationJacqueline Proszynski - Cornell UniversityJeremy Wain Hirschberg - Cornell UniversityKrista Ryon - Cornell UniversityChristopher E. Mason - Cornell UniversityMital S. Bhakta - Dovetail GenomicsJ. Zachary Sanborn - Dovetail GenomicsElizabeth M. Munding - Dovetail GenomicsJustin Wagner - National Institute of Standards and TechnologyChunlin Xiao - National Center for Biotechnology InformationAndrew S. Liss - Massachusetts General HospitalJustin M. Zook - National Institute of Standards and Technology
- Publication Details
- Scientific data, v 12(1), 1195
- Publisher
- Nature Publishing Group
- Number of pages
- 22
- Grant note
- 1936791; 1919691 / National Science Foundation (NSF) (https://doi.org/10.13039/100000001) U01CA253405; OT2OD034190; R35GM133747 / U.S. Department of Health & Human Services | National Institutes of Health (NIH) (https://doi.org/10.13039/100000002) U24HG011853; R01HG011274 / U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) (https://doi.org/10.13039/100000051) 60NANB20D166 / United States Department of Commerce | National Institute of Standards and Technology (NIST) (https://doi.org/10.13039/100000161) NIH S10 grant 1S10OD028587
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Electrical and Computer Engineering; School of Education
- Web of Science ID
- WOS:001530758800001
- Scopus ID
- 2-s2.0-105010894279
- Other Identifier
- 991022064894004721
UN Sustainable Development Goals (SDGs)
This publication has contributed to the advancement of the following goals:
InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Collaboration types
- Industry collaboration
- Domestic collaboration
- Web of Science research areas
- Biotechnology & Applied Microbiology