Color Genomics, 831 Mitten Road, Suite 100, Burlingame, CA, 94010, USA.
Database (Oxford). 2020 Jan 1;2020. doi: 10.1093/database/baaa083.
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/.
公开可用的遗传数据库促进了数据共享，并为疾病的预防、治疗和管理推动了科学发现。2018 年，我们构建了 Color Data，这是一个用户友好的、开放获取的数据库，包含了 5 万名个体的基因型和自我报告的表型信息，这些个体的 30 个与遗传性癌症相关的基因已被测序。为了继续促进对这些类型数据的访问，我们推出了 Color Data v2，这是 Color Data 数据库的更新版本。新版本包括来自 18000 多名个体的更多临床遗传检测结果，这些个体的 30 个与遗传性心血管疾病相关的基因以及乳腺癌、冠心病和心房颤动的多基因风险评分已被测序。此外，我们使用自我报告的表型信息来实施以下四个临床风险模型：用于乳腺癌 5 年风险的 Gail 模型、用于乳腺癌终生风险的 Claus 模型、用于冠心病 10 年风险的简单基于办公室的 Framingham 冠心病风险评分和用于心房颤动 5 年风险的 CHARGE-AF 简单评分。这些新的功能和特性通过数据库中的两个示例查询得到了突出展示。我们希望这些数据的广泛传播将帮助研究人员继续探索基因型-表型相关性，并识别用于功能分析的新型变体，从而推动人口基因组学领域的科学发现。数据库网址：https://data.color.com/。
