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

Authors :
Mitchell J. Machiela
Wen-Yi Huang
Wendy Wong
Sonja I. Berndt
Joshua Sampson
Jonas De Almeida
Mustapha Abubakar
Jada Hislop
Kai-Ling Chen
Casey Dagnall
Norma Diaz-Mayoral
Mary Ferrell
Michael Furr
Alex Gonzalez
Belynda Hicks
Aubrey K. Hubbard
Amy Hutchinson
Kevin Jiang
Kristine Jones
Jia Liu
Erikka Loftfield
Jennifer Loukissas
Jerome Mabie
Shannon Merkle
Eric Miller
Lori M. Minasian
Ellen Nordgren
Brian Park
Paul Pinsky
Thomas Riley
Lorena Sandoval
Neeraj Saxena
Aurelie Vogt
Jiahui Wang
Craig Williams
Patrick Wright
Meredith Yeager
Bin Zhu
Claire Zhu
Stephen J. Chanock
Montserrat Garcia-Closas
Neal D. Freedman
Source :
Scientific Data, Vol 10, Iss 1, Pp 1-12 (2023)
Publication Year :
2023
Publisher :
Nature Portfolio, 2023.

Abstract

Abstract 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.

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20524463
Volume :
10
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Scientific Data
Publication Type :
Academic Journal
Accession number :
edsdoj.18e9cf5db56e4fb2a19dac1e5bed4a75
Document Type :
article
Full Text :
https://doi.org/10.1038/s41597-022-01921-2