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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 individuals...

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Autores principales: Berger, Mark J, Williams, Hannah E, Barrett, Ryan, Zimmer, Anjali D, McKennon, Wendy, Hong, Huy, Ginsberg, Jeremy, Zhou, Alicia Y, Neben, Cynthia L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7661094/
https://www.ncbi.nlm.nih.gov/pubmed/33181822
http://dx.doi.org/10.1093/database/baaa083
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author Berger, Mark J
Williams, Hannah E
Barrett, Ryan
Zimmer, Anjali D
McKennon, Wendy
Hong, Huy
Ginsberg, Jeremy
Zhou, Alicia Y
Neben, Cynthia L
author_facet Berger, Mark J
Williams, Hannah E
Barrett, Ryan
Zimmer, Anjali D
McKennon, Wendy
Hong, Huy
Ginsberg, Jeremy
Zhou, Alicia Y
Neben, Cynthia L
author_sort Berger, Mark J
collection PubMed
description 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 5-year risk of breast cancer, Claus Model for lifetime risk of breast cancer, simple office-based Framingham Coronary Heart Disease Risk Score for 10-year risk of coronary heart disease and CHARGE-AF simple score for 5-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 these 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. Database URL: https://data.color.com/
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spelling pubmed-76610942020-11-18 Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets Berger, Mark J Williams, Hannah E Barrett, Ryan Zimmer, Anjali D McKennon, Wendy Hong, Huy Ginsberg, Jeremy Zhou, Alicia Y Neben, Cynthia L Database (Oxford) Database Update 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 5-year risk of breast cancer, Claus Model for lifetime risk of breast cancer, simple office-based Framingham Coronary Heart Disease Risk Score for 10-year risk of coronary heart disease and CHARGE-AF simple score for 5-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 these 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. Database URL: https://data.color.com/ Oxford University Press 2020-11-11 /pmc/articles/PMC7661094/ /pubmed/33181822 http://dx.doi.org/10.1093/database/baaa083 Text en © The Author(s) 2020. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Database Update
Berger, Mark J
Williams, Hannah E
Barrett, Ryan
Zimmer, Anjali D
McKennon, Wendy
Hong, Huy
Ginsberg, Jeremy
Zhou, Alicia Y
Neben, Cynthia L
Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets
title Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets
title_full Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets
title_fullStr Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets
title_full_unstemmed Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets
title_short Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets
title_sort color data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets
topic Database Update
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7661094/
https://www.ncbi.nlm.nih.gov/pubmed/33181822
http://dx.doi.org/10.1093/database/baaa083
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