论文标题
CAGI是基因组解释的关键评估，为计算遗传变异解释方法的进步和前景建立了
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
论文作者
论文摘要
基因组解释（CAGI）的批判性评估旨在推进遗传变异影响的计算预测，尤其是与疾病相关的遗传变异的计算预测。 CAGI社区实验的五个完整版本包括50个挑战，其中参与者从遗传数据中对表型进行了盲目的预测，并由独立评估者评估这些挑战。总体而言，结果表明，尽管当前方法不完善，但它们具有研究和临床应用的主要实用性。错义变体解释方法能够以越来越高的精度估算生化效应。对于包括一些难以诊断的病例在内的临床致病变异，性能尤其强，并且扩展到与癌症相关变体的解释。评估调节变异和复杂性状疾病风险的方法的确定性较低，表明表现可能适合诊所中的辅助使用。新兴方法和越来越大的培训和评估数据集有望进一步进展。
The Critical Assessment of Genome Interpretation (CAGI) aims to advance the state of the art for computational prediction of genetic variant impact, particularly those relevant to disease. The five complete editions of the CAGI community experiment comprised 50 challenges, in which participants made blind predictions of phenotypes from genetic data, and these were evaluated by independent assessors. Overall, results show that while current methods are imperfect, they have major utility for research and clinical applications. Missense variant interpretation methods are able to estimate biochemical effects with increasing accuracy. Performance is particularly strong for clinical pathogenic variants, including some difficult-to-diagnose cases, and extends to interpretation of cancer-related variants. Assessment of methods for regulatory variants and complex trait disease risk is less definitive, and indicates performance potentially suitable for auxiliary use in the clinic. Emerging methods and increasingly large, robust datasets for training and assessment promise further progress ahead.
