The Clinical Genome Resource - Expert Curation and EHR Integration

项目摘要/摘要--总体 人类基因组推动了基因测序技术的根本性进步 项目，现在正在反过来改变基因组科学和医学。然而，基因组的前景 医学仍然受到缺乏关于遗传基因的权威信息来源的限制 对疾病的贡献。尽管许多团体正试图单独解决这一差距，如 如果它们继续脱节，这些努力最终将达不到目的。Clingen资源代表一个 遗传学界的合作努力，以建立一个基于证据的资源， 评估基因和变异的临床相关性。此知识库对以下各项至关重要 自信、高效地分析和解释基因组规模的序列数据。我们的目标是 提供来自医学文献的证据的公开可用共识摘要，基本 科学研究人员和临床实验室关于涉及到的基因和变异 人类的健康和疾病。将为研究人员、临床实验室、 医生、患者和电子健康记录，以确保资源可广泛访问。 调查员联盟将通过追求五个具体目标来实现这一目标：1)分享 临床医生、研究人员和患者之间通过集中式和 用于临床和研究的联合数据库；2)制定和实施标准，以支持 基因和变异的临床注释和解释；3)开发数据标准、软件 基础设施和计算方法，以实现规模化管理并促进整合到 医疗保健提供；4)加强和加快对基因和 变种；以及5)将克莱根知识和资源传播和整合到更广泛的 社区。该提案通过利用新的方法来评估基因和 健壮和可复制的变体，并建立专家管理小组的生态系统 采用标准化程序，并有更新和重新分析的机制。该提案是 前瞻性思考，将注意确保资源与 不同的终端用户，包括电子健康记录。拟议的资源项目意义重大 因为它将为人类基因组提供免费的专家管理 采用透明和循证的方法，在许多临床领域开展工作。

Project Summary/Abstract – Overall Fundamental advances in genetic sequencing technologies were stimulated by the human genome project and are now in turn transforming genome science and medicine. Yet the promise of genomic medicine remains limited by the lack of definitive sources of information about the genetic contributions to disease. Although many groups are attempting to address this gap individually, such efforts will ultimately fall short if they remain disconnected. The ClinGen Resource represents a collaborative effort of the genetics community to establish an evidence-based resource for the assessment of the clinical relevance of genes and variants. This knowledge base is critical for confident, efficient analysis and interpretation of genome-scale sequence data. The objective is to provide a publicly available consensus summary of the evidence from the medical literature, basic science researchers, and clinical laboratories regarding the genes and variants that are implicated in human health and disease. Dedicated portals will be provided for researchers, clinical laboratories, physicians, patients, and electronic health records to ensure that the resource is widely accessible. The consortium of investigators will accomplish this objective by pursuing five specific aims: 1) Share genomic and phenotypic data between clinicians, researchers, and patients through centralized and federated databases for clinical and research use; 2) Develop and implement standards to support clinical annotation and interpretation of genes and variants; 3) Develop data standards, software infrastructure and computational approaches to enable curation at scale and facilitate integration into healthcare delivery; 4) Enhance and accelerate expert review of the clinical relevance of genes and variants; and 5) Disseminate and integrate ClinGen knowledge and resources to the broader community. The proposal innovates by utilizing novel approaches for the assessment of genes and variants that are robust and reproducible, and by establishing an ecosystem of expert curation groups that apply standardized procedures, with mechanisms for updating and reanalysis. The proposal is forward-thinking in that attention will be paid to ensuring the interoperability of the resource with diverse end-users, including electronic health records. The proposed resource project is significant because it will provide freely available expert curation of the human genome across a substantial number of clinical domains, with a transparent and evidence-based approach.