Center for Critical Assessment of Genome Interpretation

 描述(由申请人提供)：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，从而极大地影响临床实践。在获取数据和实现这些好处和其他好处之间存在多重障碍。特别是，需要强大的和具有良好特性的计算方法来推断基因组变异对疾病的相关表型影响。已经有超过50种这样的方法，但目前，尽管一些方法已经部署在临床实践中，我们不知道这些方法在相关基因组解释任务中的表现如何。此外，已经很清楚的是，必须制定新的、更复杂的办法，以充分应对新的挑战。基因组解释关键评估中心(C-CAGI)将通过不断客观评估遗传信息与表型之间的关系，特别是人类遗传变异与健康之间的关系，来满足这些需求。这些目标包括三个具体目标：1.评估当前用于解释基因组变异数据的计算方法的质量，并突出创新和进步。在2010年、2011年和2013年成功进行初步实验的基础上，C-CAGI将在社区范围内进行实验，参与者根据基因组数据对疾病相关表型进行真诚的盲目预测。这些方法由独立的评估员进行评估，可以获得正确的答案，以确定方法的相对和绝对效果如何。这些评估将确立最先进的技术，并推动该领域的发展。2.指导未来在计算基因组解释方面的研究工作，并建立强大的协作和互动社区。C-CAGI旨在通过CAGI研讨会、黑客马拉松、教程和其他机制，吸引和扩大研究人员社区，解释基因组变异的表型影响。我们希望使用CAGI来刺激和认可在实践和临床研究的广度上的创新方法。C-CAGI还将鼓励和委托进行必要的实验研究，以集中测试计算方法。C-CAGI在使用人类研究参与者数据方面具有强大的伦理基础，并得到CAGI伦理论坛的支持。3.广泛传播CAGI实验和分析的结果和结论。C-CAGI的目标是成为解释基因组变异的信息的中心资源。这项向更广泛的科学和临床社区进行的传播将使用其出版物、最佳实践指南和 网络资源，以及在国际会议上的演讲、教程和研讨会。

 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.