Clinical Genome Inference System: Variant Prioritization for Clinical Diagnostics

临床基因组推断系统：临床诊断的变异优先级排序

• 批准号: 8542887
• 负责人: MARTIN G REESE
• 金额: $ 78.18万
• 依托单位: FABRIC GENOMICS INC.
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-06-06 至 2015-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8542887
• 关键词: Algorithms; Amino Acid Substitution; Base Sequence; Clinical; Complement; Complex; Computer software; Data; Databases; Development; Diagnostic; Disease; Environment; Family; Functional RNA; Funding; Genes; Genetic Variation; Genome; Goals; Grant; Health; Hereditary Disease; Human; Human Genome; Human Genome Project; Individual; Laboratories; Letters; Literature; MeSH Thesaurus; Measures; Medical; Medical Research; Meta-Analysis; Mining; Molecular; Names; National Human Genome Research Institute; Nature; Online Systems; Ontology; Output; Patients; Phase; Population; Process; Publications; Publishing; Reporting; Research Infrastructure; Running; Scientist; Sensitivity and Specificity; Small Business Innovation Research Grant; Solutions; Speed; System; Testing; Time; To specify; United States National Institutes of Health; Update; Utah; Variant; base; clinical decision-making; clinically relevant; cohort; cost; data mining; early childhood; exome; flexibility; genetic variant; genome analysis; genome annotation; genome sequencing; genome-wide; graphical user interface; improved; innovation; programs; prototype; success; tool

DESCRIPTION (provided by applicant): Taking sequence to bedside is the stated and primary focus of the NHGRI for the next 5 years. Ironically, cheap genome sequencing is now producing analysis bottlenecks, especially as regards the clinical interpretation of genetic variants. The purpose of this SBIR FastTrack proposal is to obtain funding for the integration of two innovative analysis tools, developed by the PIs in parts by other NIH sponsored projects, to produce an integrated system called CGIS for sequenced-based clinical diagnostics using personal genome sequences. CGIS will greatly speed the clinical decision making process, and hence has enormous potential for commercial impact. Early adopters and collaborators include ARUP, one of the nation's top tier diagnostic, CLIA regulated, reference laboratories.

描述（由申请人提供）：在接下来的5年中，NHGRI的陈述和主要焦点是将序列列为床边。具有讽刺意味的是，廉价的基因组测序现在正在产生分析瓶颈，尤其是关于遗传变异的临床解释。该SBIR FastTrack提案的目的是获得资金，用于集成两种创新分析工具，这些工具由PIS由其他NIH赞助的项目部分开发，以生产一种使用个人基因组序列的名为CGI的集成系统，用于基于测序的临床诊断。 CGI将大大加快临床决策过程，因此具有巨大的商业影响潜力。早期采用者和合作者包括Arup，Arup是美国顶级诊断，Clia受监管的参考实验室之一。

项目成果

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

• DOI: 10.7717/peerj.177
• 发表时间: 2013
• 期刊: PeerJ
• 影响因子: 2.7
• 作者: O'Rawe JA;Fang H;Rynearson S;Robison R;Kiruluta ES;Higgins G;Eilbeck K;Reese MG;Lyon GJ
• 通讯作者: Lyon GJ

Assuring the quality of next-generation sequencing in clinical laboratory practice.

• DOI: 10.1038/nbt.2403
• 发表时间: 2012-11
• 期刊: Nature biotechnology
• 影响因子: 46.9