{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T19:01:42Z","timestamp":1777489302011,"version":"3.51.4"},"reference-count":25,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2020,11,13]],"date-time":"2020-11-13T00:00:00Z","timestamp":1605225600000},"content-version":"vor","delay-in-days":317,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Color Genomics"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>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\u2009000 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\u2009000 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\u2013phenotype correlations and identify novel variants for functional analysis, enabling scientific discoveries in the field of population genomics.<\/jats:p>\n                  <jats:p>Database URL: https:\/\/data.color.com\/<\/jats:p>","DOI":"10.1093\/database\/baaa083","type":"journal-article","created":{"date-parts":[[2020,9,2]],"date-time":"2020-09-02T23:21:03Z","timestamp":1599088863000},"source":"Crossref","is-referenced-by-count":4,"title":["Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets"],"prefix":"10.1093","volume":"2020","author":[{"given":"Mark J","family":"Berger","sequence":"first","affiliation":[{"name":"Color Genomics, 831 Mitten Road, Suite 100, Burlingame, CA, 94010, USA"}]},{"given":"Hannah E","family":"Williams","sequence":"additional","affiliation":[{"name":"Color Genomics, 831 Mitten Road, Suite 100, Burlingame, CA, 94010, USA"}]},{"given":"Ryan","family":"Barrett","sequence":"additional","affiliation":[{"name":"Color Genomics, 831 Mitten Road, Suite 100, Burlingame, CA, 94010, USA"}]},{"given":"Anjali D","family":"Zimmer","sequence":"additional","affiliation":[{"name":"Color Genomics, 831 Mitten Road, Suite 100, Burlingame, CA, 94010, USA"}]},{"given":"Wendy","family":"McKennon","sequence":"additional","affiliation":[{"name":"Color Genomics, 831 Mitten Road, Suite 100, Burlingame, CA, 94010, USA"}]},{"given":"Huy","family":"Hong","sequence":"additional","affiliation":[{"name":"Color Genomics, 831 Mitten Road, Suite 100, Burlingame, CA, 94010, USA"}]},{"given":"Jeremy","family":"Ginsberg","sequence":"additional","affiliation":[{"name":"Color Genomics, 831 Mitten Road, Suite 100, Burlingame, CA, 94010, USA"}]},{"given":"Alicia Y","family":"Zhou","sequence":"additional","affiliation":[{"name":"Color Genomics, 831 Mitten Road, Suite 100, Burlingame, CA, 94010, USA"}]},{"given":"Cynthia L","family":"Neben","sequence":"additional","affiliation":[{"name":"Color Genomics, 831 Mitten Road, Suite 100, Burlingame, CA, 94010, USA"}]}],"member":"286","published-online":{"date-parts":[[2020,11,11]]},"reference":[{"key":"2020120620393184100_R1","doi-asserted-by":"publisher","DOI":"10.1093\/database\/baz013.","article-title":"A scalable, aggregated genotypic-phenotypic database for human disease variation","volume":"2019","author":"Barrett","year":"2019","journal-title":"Database"},{"key":"2020120620393184100_R2","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/s10689-019-00144-6","article-title":"Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European","volume":"18","author":"Ndugga-Kabuye","year":"2019","journal-title":"Fam. Cancer"},{"key":"2020120620393184100_R3","doi-asserted-by":"crossref","first-page":"80.e1","DOI":"10.1016\/j.urolonc.2019.09.010","article-title":"Ethnic disparities among men with prostate cancer undergoing germline testing","volume":"38","author":"Kwon","year":"2019","journal-title":"Urol. Oncol."},{"key":"2020120620393184100_R4","article-title":"Science Extension | Garvan institute of medical research","year":"2018"},{"key":"2020120620393184100_R5","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1093\/jnci\/81.24.1879","article-title":"Projecting individualized probabilities of developing breast cancer for white females who are being examined annually","volume":"81","author":"Gail","year":"1989","journal-title":"J. Natl. Cancer Inst."},{"key":"2020120620393184100_R6","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1002\/1097-0142(19940201)73:3<643::AID-CNCR2820730323>3.0.CO;2-5","article-title":"Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction","volume":"73","author":"Claus","year":"1994","journal-title":"Cancer"},{"key":"2020120620393184100_R7","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1161\/CIRCULATIONAHA.107.699579","article-title":"General cardiovascular risk profile for use in primary care: the Framingham heart study","volume":"117","author":"D\u2019Agostino","year":"2008","journal-title":"Circulation"},{"key":"2020120620393184100_R8","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.112.000102","article-title":"Simple risk model predicts incidence of atrial fibrillation in a racially and geographically diverse population: the CHARGE-AF consortium","volume":"2","author":"Alonso","year":"2013","journal-title":"J. Am. Heart Assoc."},{"key":"2020120620393184100_R9","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1038\/s41588-018-0183-z","article-title":"Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations","volume":"50","author":"Khera","year":"2018","journal-title":"Nat. Genet."},{"key":"2020120620393184100_R10","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.ajhg.2018.11.002","article-title":"Polygenic risk scores for prediction of breast cancer and breast cancer subtypes","volume":"104","author":"Mavaddat","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"2020120620393184100_R11","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.jmoldx.2019.03.001","article-title":"Multi-Gene panel testing of 23,179 individuals for hereditary cancer risk identifies pathogenic variant carriers missed by current genetic testing guidelines","volume":"21","author":"Neben","year":"2019","journal-title":"J. Mol. Diagn."},{"key":"2020120620393184100_R12","doi-asserted-by":"crossref","DOI":"10.1186\/s13073-019-0682-2","article-title":"Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores","volume":"11","author":"Homburger","year":"2019","journal-title":"Genome Med."},{"key":"2020120620393184100_R13","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-020-17374-3","article-title":"Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions","volume":"11","author":"Fahed","year":"2020","journal-title":"Nat. Commun."},{"key":"2020120620393184100_R14","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1161\/CIRCULATIONAHA.118.035658","article-title":"Whole-genome sequencing to characterize monogenic and polygenic contributions in patients hospitalized with early-onset myocardial infarction","volume":"139","author":"Khera","year":"2019","journal-title":"Circulation"},{"key":"2020120620393184100_R15","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1038\/s41588-019-0379-x","article-title":"Clinical use of current polygenic risk scores may exacerbate health disparities","volume":"51","author":"Martin","year":"2019","journal-title":"Nat. Genet."},{"key":"2020120620393184100_R16","first-page":"1","article-title":"Mortality in the United States, 2017","volume":"328","author":"Murphy","year":"2018","journal-title":"NCHS Data Brief"},{"key":"2020120620393184100_R17","author":"gnomAD"},{"key":"2020120620393184100_R18","doi-asserted-by":"crossref","DOI":"10.1038\/srep18184","article-title":"Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial hypercholesterolaemia provides novel insights into variant pathogenicity","volume":"5","author":"Fern\u00e1ndez-Higuero","year":"2015","journal-title":"Sci. Rep."},{"key":"2020120620393184100_R19","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1016\/S0140-6736(69)90930-1","article-title":"Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states","volume":"2","author":"Slack","year":"1969","journal-title":"Lancet"},{"key":"2020120620393184100_R20","article-title":"Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores","volume":"11","author":"Fahed","year":"2019","journal-title":"Genetic Genomic Med."},{"key":"2020120620393184100_R21","doi-asserted-by":"crossref","DOI":"10.1093\/jnci\/djw302","article-title":"Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers","author":"Kuchenbaecker","year":"2017","journal-title":"J. Natl. Cancer Inst."},{"key":"2020120620393184100_R22","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-019-12869-0","article-title":"Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders","volume":"10","author":"Oetjens","year":"2019","journal-title":"Nat. Commun."},{"key":"2020120620393184100_R23","doi-asserted-by":"crossref","DOI":"10.1136\/openhrt-2017-000686","article-title":"Routinely collected health data to study inherited heart disease: a systematic review (2000-2016)","volume":"4","author":"Blanch","year":"2017","journal-title":"Open Heart"},{"key":"2020120620393184100_R24","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1016\/j.jacc.2015.01.019","article-title":"New perspectives on the prevalence of hypertrophic cardiomyopathy","volume":"65","author":"Semsarian","year":"2015","journal-title":"J. Am. Coll. Cardiol."},{"key":"2020120620393184100_R25","doi-asserted-by":"crossref","first-page":"2349","DOI":"10.1056\/NEJMoa1605086","article-title":"Genetic risk, adherence to a healthy lifestyle, and coronary disease","volume":"375","author":"Khera","year":"2016","journal-title":"N. Engl. J. Med."}],"container-title":["Database"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/database\/article-pdf\/doi\/10.1093\/database\/baaa083\/34283816\/baaa083.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/database\/article-pdf\/doi\/10.1093\/database\/baaa083\/34283816\/baaa083.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,12,6]],"date-time":"2020-12-06T22:43:13Z","timestamp":1607294593000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/database\/article\/doi\/10.1093\/database\/baaa083\/5979743"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,1]]},"references-count":25,"URL":"https:\/\/doi.org\/10.1093\/database\/baaa083","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2020.01.15.907212","asserted-by":"object"}]},"ISSN":["1758-0463"],"issn-type":[{"value":"1758-0463","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020]]},"published":{"date-parts":[[2020,1,1]]},"article-number":"baaa083"}}