GWAS Explorer: an open-source tool to explore, visualize, and access GWAS summary statistics in the PLCO Atlas.


Journal

Scientific data
ISSN: 2052-4463
Titre abrégé: Sci Data
Pays: England
ID NLM: 101640192

Informations de publication

Date de publication:
12 01 2023
Historique:
received: 14 05 2022
accepted: 21 12 2022
entrez: 12 1 2023
pubmed: 13 1 2023
medline: 17 1 2023
Statut: epublish

Résumé

The Prostate, Lung, Colorectal and Ovarian (PLCO) Cancer Screening Trial is a prospective cohort study of nearly 155,000 U.S. volunteers aged 55-74 at enrollment in 1993-2001. We developed the PLCO Atlas Project, a large resource for multi-trait genome-wide association studies (GWAS), by genotyping participants with available DNA and genomic consent. Genotyping on high-density arrays and imputation was performed, and GWAS were conducted using a custom semi-automated pipeline. Association summary statistics were generated from a total of 110,562 participants of European, African and Asian ancestry. Application programming interfaces (APIs) and open-source software development kits (SKDs) enable exploring, visualizing and open data access through the PLCO Atlas GWAS Explorer website, promoting Findable, Accessible, Interoperable, and Re-usable (FAIR) principles. Currently the GWAS Explorer hosts association data for 90 traits and >78,000,000 genomic markers, focusing on cancer and cancer-related phenotypes. New traits will be posted as association data becomes available. The PLCO Atlas is a FAIR resource of high-quality genetic and phenotypic data with many potential reuse opportunities for cancer research and genetic epidemiology.

Identifiants

pubmed: 36635305
doi: 10.1038/s41597-022-01921-2
pii: 10.1038/s41597-022-01921-2
pmc: PMC9837135
doi:

Types de publication

Dataset Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

25

Subventions

Organisme : U.S. Department of Health & Human Services | NIH | NCI | Division of Cancer Epidemiology and Genetics, National Cancer Institute (National Cancer Institute Division of Cancer Epidemiology and Genetics)
ID : Intramural Research Program

Informations de copyright

© 2023. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.

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Auteurs

Mitchell J Machiela (MJ)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA. mitchell.machiela@nih.gov.

Wen-Yi Huang (WY)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA.

Wendy Wong (W)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA.

Sonja I Berndt (SI)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA.

Joshua Sampson (J)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA.

Jonas De Almeida (J)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA.

Mustapha Abubakar (M)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA.

Jada Hislop (J)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA.

Kai-Ling Chen (KL)

Essential Software Inc., Center for Biomedical Informatics and Information Technology, NCI, Rockville, USA.

Casey Dagnall (C)

Cancer Genomics Research Laboratory, DCEG, NCI, Frederick National Laboratory for Cancer Research (FNLCR), Leidos Biomedical Research, Inc., Rockville, USA.

Norma Diaz-Mayoral (N)

BioProcessing and Trial Logistics Laboratory, FNLCR, Leidos Biomedical Research, Inc. Division of Cancer Prevention, NCI, NIH, Rockville, USA.

Mary Ferrell (M)

NCI at Frederick Central Repository, American Type Culture Collection, Rockville, USA.

Michael Furr (M)

Information Management Services, Inc., Danbury, USA.

Alex Gonzalez (A)

NCI at Frederick Central Repository, American Type Culture Collection, Rockville, USA.

Belynda Hicks (B)

Cancer Genomics Research Laboratory, DCEG, NCI, Frederick National Laboratory for Cancer Research (FNLCR), Leidos Biomedical Research, Inc., Rockville, USA.

Aubrey K Hubbard (AK)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA.

Amy Hutchinson (A)

Cancer Genomics Research Laboratory, DCEG, NCI, Frederick National Laboratory for Cancer Research (FNLCR), Leidos Biomedical Research, Inc., Rockville, USA.

Kevin Jiang (K)

Essential Software Inc., Center for Biomedical Informatics and Information Technology, NCI, Rockville, USA.

Kristine Jones (K)

Cancer Genomics Research Laboratory, DCEG, NCI, Frederick National Laboratory for Cancer Research (FNLCR), Leidos Biomedical Research, Inc., Rockville, USA.

Jia Liu (J)

Cancer Genomics Research Laboratory, DCEG, NCI, Frederick National Laboratory for Cancer Research (FNLCR), Leidos Biomedical Research, Inc., Rockville, USA.

Erikka Loftfield (E)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA.

Jennifer Loukissas (J)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA.

Jerome Mabie (J)

Information Management Services, Inc., Danbury, USA.

Shannon Merkle (S)

Information Management Services, Inc., Danbury, USA.

Eric Miller (E)

Division of Cancer Prevention, NCI, NIH, Rockville, USA.

Lori M Minasian (LM)

Division of Cancer Prevention, NCI, NIH, Rockville, USA.

Ellen Nordgren (E)

NCI at Frederick Central Repository, American Type Culture Collection, Rockville, USA.

Brian Park (B)

Essential Software Inc., Center for Biomedical Informatics and Information Technology, NCI, Rockville, USA.

Paul Pinsky (P)

Division of Cancer Prevention, NCI, NIH, Rockville, USA.

Thomas Riley (T)

Information Management Services, Inc., Danbury, USA.

Lorena Sandoval (L)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA.

Neeraj Saxena (N)

Division of Cancer Prevention, NCI, NIH, Rockville, USA.

Aurelie Vogt (A)

Cancer Genomics Research Laboratory, DCEG, NCI, Frederick National Laboratory for Cancer Research (FNLCR), Leidos Biomedical Research, Inc., Rockville, USA.

Jiahui Wang (J)

Cancer Genomics Research Laboratory, DCEG, NCI, Frederick National Laboratory for Cancer Research (FNLCR), Leidos Biomedical Research, Inc., Rockville, USA.

Craig Williams (C)

Information Management Services, Inc., Danbury, USA.

Patrick Wright (P)

Information Management Services, Inc., Danbury, USA.

Meredith Yeager (M)

Cancer Genomics Research Laboratory, DCEG, NCI, Frederick National Laboratory for Cancer Research (FNLCR), Leidos Biomedical Research, Inc., Rockville, USA.

Bin Zhu (B)

Cancer Genomics Research Laboratory, DCEG, NCI, Frederick National Laboratory for Cancer Research (FNLCR), Leidos Biomedical Research, Inc., Rockville, USA.

Claire Zhu (C)

Division of Cancer Prevention, NCI, NIH, Rockville, USA.

Stephen J Chanock (SJ)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA.

Montserrat Garcia-Closas (M)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA.

Neal D Freedman (ND)

Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), National Institutes of Health (NIH), Rockville, USA.

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