Clinical Genome Resource (ClinGen)

临床基因组资源 (ClinGen)

• 批准号: 9769097
• 负责人: Thomas J Montine
• 金额: $ 299.07万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-09-12 至 2021-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9769097
• 关键词: Alleles; Classification; Clinical; Clinical Practice Guideline; Clinical Research; Communities; Complex; Computational Biology; Computer software; Data; Data Set; Disease; Documentation; E-learning; Educational workshop; Funding; Genes; Genetic; Genetic Diseases; Genetic Variation; Genome; Genomics; Genotype; Goals; Grant; Hereditary Malignant Neoplasm; Informatics; Infrastructure; Knowledge; Level of Evidence; Link; Malignant Neoplasms; Medicine; Mendelian disorder; Outcome; Pathogenicity; Patient Care; Patient-Focused Outcomes; Patients; Pharmacogenomics; Phase; Population; Population Heterogeneity; Process; Processed Genes; Registries; Reporting; Research Personnel; Resources; Source; Testing; Training; United States National Institutes of Health; Untranslated RNA; Variant; Work; base; bioinformatics tool; central database; clinical application; clinical care; clinical development; clinical implementation; clinically relevant; ethnic diversity; federated computing; genetic variant; genomic data; health care delivery; improved; informatics infrastructure; knowledge base; online resource; phenotypic data; tool; webinar; working group

PROJECT SUMMARY/ABSTRACT (OVERALL) We propose here to continue our work to create the world’s best community resource for the curation and dissemination of knowledge on genetic variations relevant to clinical care through the development of the Clinical Genome (ClinGen) Resource. ClinGen’s goals can be summarized by answering questions related to the evidence that variation in a gene causes disease (gene validity), specific variants within a disease gene are associated with disease (variant classification) and whether there is evidence for specific clinical actions if such variants are found (actionability). As part of the three grants submitting U41 applications, our team will have a particular focus on implementation of ClinGen processes for gene and variant curation across non-classic Mendelian disorders including hereditary cancer, somatic variation in cancer, pharmacogenomics and complex inheritance including non-coding variation in common disease. We are also proposing to further enrich the analysis of these variants across populations by the introduction of the ever increasing sequence and genotyping datasets from diverse populations. We will also explore the complex issues around reporting of ancestry in clinical genomics particularly as alleles in different settings may have different disease impact. During the first phase of ClinGen funding the Stanford/Baylor informatics and computational biology teams have built a number of curation interfaces for gene, variant and actionability curation. In this application we plan to expand the suite of online resources that seamlessly aggregates, normalizes and presents disparate sources of evidence to curators. Our goal is to enable consistent curation and improve the clinical application of genomic data in medicine through this informatics infrastructure. We will provide training for the community in the use of these tools by facilitating online learning courses, support of the clinical domain working groups and creation of helpdesks. The clinicalgenome.org online public portal will provide the outcome of these analyses for the community to utilize for clinical interpretation and development of clinical practice guidelines that are based on genetic results.

项目摘要/摘要（总体） 我们在这里建议继续我们的工作，以创造世界上最好的社区资源，以进行策划和 通过发展与临床护理相关的遗传变异知识的传播 临床基因组（克林根）资源。克林根的目标可以通过回答与 基因变异引起疾病（基因有效性）的证据，疾病基因中的特定变异是 与疾病（变异分类）相关的以及是否有证据表明特定的临床行动 发现变体（可行）。作为提交U41申请的三项赠款的一部分，我们的团队将有一个 特别专注于实施非经典基因的基因和变体策展的粘林过程 孟德尔疾病，包括遗传癌，癌症的躯体变异，药物基因组学和复合物 遗传包括普通疾病的非编码变化。我们还建议进一步丰富 通过引入不断增加的顺序和 来自潜水员人群的基因分型数据集。我们还将探讨有关报告的复杂问题 临床基因组学的祖先，尤其是在不同环境中的等位基因可能具有不同的疾病影响。 在克林根的第一阶段，斯坦福/贝勒信息和计算生物学团队 已经为基因，变体和可操作性策划建立了许多策展界面。在此应用中，我们 计划扩大无缝汇总，归一化和呈现不同的在线资源的套件 向策展人的证据来源。我们的目标是实现一致的策划并改善临床应用 通过这些信息基础设施中的医学基因组数据。我们将为社区提供培训 通过支持在线学习课程，支持临床领域工作组，使用这些工具 并创建HelpDesk。 ClinicalGenome.org在线公共门户将提供这些结果 分析社区用于临床实践指南的临床解释和开发 基于遗传结果。