Center for Critical Assessment of Genome Interpretation

基因组解释批判性评估中心

• 批准号: 8883057
• 负责人: Steven E Brenner
• 金额: $ 59.04万
• 依托单位: UNIVERSITY OF CALIFORNIA BERKELEY
• 依托单位国家: 美国
• 财政年份: 2015
• 资助国家: 美国
• 起止时间: 2015-05-13 至 2018-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8883057
• 关键词: Address; Basic Science; Blinded; Characteristics; Clinical; Clinical Research; Collaborations; Communication; Communities; Computing Methodologies; Data; Disease; Educational workshop; Ethics; Evaluation; Evolution; Foundations; Genetic; Genetic Variation; Genome; Genomics; Goals; Health; Human; Human Genetics; International; Internet; Malignant Neoplasms; Methods; Mission; Online Systems; Participant; Pharmaceutical Preparations; Phenotype; Publications; Rare Diseases; Research; Research Infrastructure; Research Personnel; Resources; Testing; Work; base; clinical application; clinical practice; data acquisition; genetic information; genetic variant; genomic variation; human disease; innovation; meetings; public health relevance; research study; response; trait

 DESCRIPTION (provided by applicant): New genomic data hold the promise of revolutionizing our understanding and treatment of human disease, and hence of greatly influencing clinical practice. Multiple barriers stand between the acquisition of the data and realizing these and other benefits. In particular, powerful and well-characterized computational methods for deducing the disease relevant phenotypic impact of genomic variants are needed. Over fifty such methods already exist, but currently, even though some are already deployed in clinical practice, we do not know how well these perform on relevant genome interpretation tasks. Further, it is already clear that new and more sophisticated approaches must be developed to fully meet the new challenges. The Center for Critical Assessment of Genome Interpretation (C-CAGI) will address these needs, through ongoing objective evaluation of the state of the art in relating genetic information to phenotype, particularly the relationship between human genetic variation and health. These goals are embraced by three specific aims: 1. Assess the quality of current computational methods for interpreting genomic variation data, and highlight innovations & progress. Building on successful initial experiments in 2010, 2011 and 2013, C-CAGI will conduct community-wide experiments in which participants make bona fide blinded predictions of disease related phenotypes on the basis of genomic data. These are evaluated by independent assessors with access to the correct answers, to determine how well methods work both relatively and absolutely. These assessments will establish the state-of-the art and advance the field. 2. Guide future research efforts in computational genome interpretation and build a strong community for collaboration and interaction. C-CAGI aims to engage and expand the community of researchers interpreting the phenotypic impact of genomic variation with CAGI workshops, hackathons, tutorials, and other mechanisms. We hope to use CAGI to spur and recognize innovative approaches to the breadth of practical and clinical research. The C-CAGI will also encourage and commission experimental studies necessary for focused testing of the computational methods. C-CAGI operates on a robust ethical foundation in using human research participant data, supported by the CAGI Ethics Forum. 3. Broadly disseminate the results and conclusions from the CAGI experiments and analysis. C-CAGI aims to be the central resource for information on interpretation of genomic variation. This dissemination to the broader scientific and clinical community will be using its publications, best practice guides, and web resources, and through presentations, tutorials, and workshops at international meetings.

 描述（由适用提供）：新的基因组数据有望彻底改变我们对人类疾病的理解和治疗，从而影响临床实践。在获取数据和实现这些和其他好处之间的多个障碍。特别是，需要强大且良好的计算方法来推论基因组变体的疾病相关的表型影响。超过五十种此类方法已经存在，但是目前，即使一些已经在临床实践中部署了，我们也不知道这些在相关基因组解释任务上的表现如何。此外，已经很明显必须开发出新的，更复杂的方法来完全应对新的挑战。基因组解释的批判性评估中心（C-CAGI）将通过对将遗传信息与表型联系起来，尤其是人类遗传变异与健康之间的关系，以解决这些需求，以解决这些需求。这些目标由三个特定目标所包含：1。评估当前的计算方法来解释基因组变异数据，并突出创新和进步。在2010年，2011年和2013年成功的初始实验的基础上，C-Cagi将进行社区范围内的实验，其中参与者根据基因组数据对疾病相关表型进行了真正的盲目预测。这些是由独立评估者评估的，可以访问正确的答案，以确定方法相对和绝对的工作效果很好。这些评估将确定最先进的现场并推进该领域。 2。指导计算基因组解释的未来研究工作，并为协作和互动建立一个强大的社区。 C-Cagi旨在吸引和扩展研究人员社区，以解释CAGI研讨会，黑客马拉松，教程和其他机制的基因组变异的表型影响。我们希望使用Cagi刺激并认识到实践和临床研究广度的创新方法。 C-Cagi还将鼓励并委托针对计算方法进行重点测试所需的实验研究。 C-Cagi在CAGI伦理论坛支持的人类研究参与数据方面以强大的道德基础运作。 3。从CAGI实验和分析中广泛传播结果和结论。 C-Cagi旨在成为有关基因组变异解释的信息的中心资源。对更广泛的科学和临床社区的传播将使用其出版物，最佳实践指南以及 网络资源，以及通过国际会议上的演讲，教程和讲习班。