Department of Plant and Microbial Biology, University of California, Berkeley, California.
Institute for Bioscience and Biotechnology Research, University of Maryland, Rockville, Maryland.
Hum Mutat. 2019 Sep;40(9):1197-1201. doi: 10.1002/humu.23876. Epub 2019 Aug 26.
Interpretation of genomic variation plays an essential role in the analysis of cancer and monogenic disease, and increasingly also in complex trait disease, with applications ranging from basic research to clinical decisions. Many computational impact prediction methods have been developed, yet the field lacks a clear consensus on their appropriate use and interpretation. The Critical Assessment of Genome Interpretation (CAGI, /'kā-jē/) is a community experiment to objectively assess computational methods for predicting the phenotypic impacts of genomic variation. CAGI participants are provided genetic variants and make blind predictions of resulting phenotype. Independent assessors evaluate the predictions by comparing with experimental and clinical data. CAGI has completed five editions with the goals of establishing the state of art in genome interpretation and of encouraging new methodological developments. This special issue (https://onlinelibrary.wiley.com/toc/10981004/2019/40/9) comprises reports from CAGI, focusing on the fifth edition that culminated in a conference that took place 5 to 7 July 2018. CAGI5 was comprised of 14 challenges and engaged hundreds of participants from a dozen countries. This edition had a notable increase in splicing and expression regulatory variant challenges, while also continuing challenges on clinical genomics, as well as complex disease datasets and missense variants in diseases ranging from cancer to Pompe disease to schizophrenia. Full information about CAGI is at https://genomeinterpretation.org.
基因组变异的解读在癌症和单基因疾病的分析中起着至关重要的作用，而且在复杂性状疾病中的应用也越来越多，从基础研究到临床决策都有涉及。已经开发出许多计算影响预测方法，但该领域缺乏关于其适当使用和解释的明确共识。基因组解读的关键评估（CAGI，/'kā-jē/）是一个社区实验，旨在客观评估预测基因组变异对表型影响的计算方法。CAGI 参与者提供遗传变异，并对由此产生的表型进行盲目的预测。独立评估者通过将预测结果与实验和临床数据进行比较来评估预测结果。CAGI 已经完成了五轮，其目标是建立基因组解读的最新技术，并鼓励新的方法学发展。 本特刊（https://onlinelibrary.wiley.com/toc/10981004/2019/40/9）包含了来自 CAGI 的报告，重点介绍了于 2018 年 7 月 5 日至 7 日举行的第五届会议达到高潮的 CAGI。CAGI5 由 14 个挑战组成，吸引了来自十几个国家的数百名参与者。这一版在剪接和表达调控变异挑战方面有显著增加，同时也继续在临床基因组学、复杂疾病数据集以及从癌症到庞贝病到精神分裂症等疾病的错义变异方面具有挑战性。有关 CAGI 的详细信息，请访问 https://genomeinterpretation.org。
