Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets

Publicly-available genetic databases promote data sharing and fuel scientific discoveries for the prevention, treatment, and management of disease. In 2018, we built Color Data, a user-friendly, open access database containing genotypic and self-reported phenotypic information from 50,000 individual...

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Bibliographic Details
Published inbioRxiv
Main Authors Berger, Mark J, Williams, Hannah E, Barrett, Ryan, Zimmer, Anjali D, Mckennon, Wendy, Hong, Huy, Ginsberg, Jeremy, Zhou, Alicia Y, Neben, Cynthia L
Format Paper
LanguageEnglish
Published Cold Spring Harbor Cold Spring Harbor Laboratory Press 15.01.2020
Subjects
Breast cancer
Cardiac arrhythmia
Cardiovascular disease
Color
Coronary artery
Coronary artery disease
Fibrillation
Genetic screening
Genomics
Genotypes
Health risk assessment
Heart diseases
Phenotypes
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Summary:Publicly-available genetic databases promote data sharing and fuel scientific discoveries for the prevention, treatment, and management of disease. In 2018, we built Color Data, a user-friendly, open access database containing genotypic and self-reported phenotypic information from 50,000 individuals who were sequenced for 30 genes associated with hereditary cancer. In a continued effort to promote access to these types of data, we launched Color Data v2, an updated version of the Color Data database. This new release includes additional clinical genetic testing results from more than 18,000 individuals who were sequenced for 30 genes associated with hereditary cardiovascular conditions, as well as polygenic risk scores for breast cancer, coronary artery disease, and atrial fibrillation. In addition, we used self-reported phenotypic information to implement the following four clinical risk models: Gail Model for five-year risk of breast cancer, Claus Model for lifetime risk of breast cancer, simple office-based Framingham Coronary Heart Disease Risk Score for ten-year risk of coronary heart disease, and CHARGE-AF simple score for five-year risk of atrial fibrillation. These new features and capabilities are highlighted through two sample queries in the database. We hope that the broad dissemination of this data will help researchers continue to explore genotype-phenotype correlations and identify novel variants for functional analysis, enabling scientific discoveries in the field of population genomics. Footnotes * https://data.color.com/
DOI:10.1101/2020.01.15.907212