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） 我们在此建议继续努力，为策展和创建世界上最好的社区资源 通过开发与临床护理相关的遗传变异知识来传播 临床基因组 (ClinGen) 资源。 ClinGen 的目标可以通过回答以下相关问题来概括： 基因变异导致疾病的证据（基因有效性），疾病基因内的特定变异是 与疾病（变异分类）相关，以及是否有特定临床作用的证据（如果有） 发现变体（可操作性）。作为提交 U41 申请的三项资助的一部分，我们的团队将拥有 特别关注非经典基因和变异管理的 ClinGen 流程的实施 孟德尔疾病，包括遗传性癌症、癌症的体细胞变异、药物基因组学和复杂的 遗传，包括常见疾病的非编码变异。我们还建议进一步丰富 通过引入不断增加的序列来分析跨人群的这些变异 来自不同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 临床基因组学中的祖先，特别是不同环境中的等位基因可能会对疾病产生不同的影响。 在 ClinGen 的第一阶段资助斯坦福/贝勒信息学和计算生物学团队 建立了许多基因、变异和可操作性管理的管理界面。在这个应用程序中我们 计划扩展在线资源套件，无缝聚合、标准化和呈现不同的内容 策展人的证据来源。我们的目标是实现一致的治疗并改善临床应用 通过此信息学基础设施收集医学中的基因组数据。我们将为社区提供培训 通过促进在线学习课程、临床领域工作组的支持来使用这些工具 和创建帮助台。 Clinicalgenome.org 在线公共门户将提供这些结果 供社区用于临床解释和临床实践指南制定的分析 这是基于遗传结果的。