Niroula Abhishek, Vihinen Mauno
Protein Structure and Bioinformatics Group, Department of Experimental Medical Science, Lund University, Lund, Sweden.
Hum Mutat. 2017 Sep;38(9):1085-1091. doi: 10.1002/humu.23199. Epub 2017 May 2.
Computational tools are widely used for ranking and prioritizing variants for characterizing their disease relevance. Since numerous tools have been developed, they have to be properly assessed before being applied. Critical Assessment of Genome Interpretation (CAGI) experiments have significantly contributed toward the assessment of prediction methods for various tasks. Within and outside the CAGI, we have addressed several questions that facilitate development and assessment of variation interpretation tools. These areas include collection and distribution of benchmark datasets, their use for systematic large-scale method assessment, and the development of guidelines for reporting methods and their performance. For us, CAGI has provided a chance to experiment with new ideas, test the application areas of our methods, and network with other prediction method developers. In this article, we discuss our experiences and lessons learned from the various CAGI challenges. We describe our approaches, their performance, and impact of CAGI on our research. Finally, we discuss some of the possibilities that CAGI experiments have opened up and make some suggestions for future experiments.
计算工具被广泛用于对变异进行排序和优先级划分,以表征其与疾病的相关性。由于已经开发了众多工具,在应用之前必须对其进行恰当评估。基因组解释关键评估(CAGI)实验对各种任务的预测方法评估做出了重大贡献。在CAGI内部和外部,我们解决了几个有助于变异解释工具开发和评估的问题。这些领域包括基准数据集的收集和分发、将其用于系统的大规模方法评估,以及制定报告方法及其性能的指南。对我们来说,CAGI提供了一个试验新想法、测试我们方法的应用领域以及与其他预测方法开发者建立联系的机会。在本文中,我们讨论我们从各种CAGI挑战中获得的经验和教训。我们描述我们的方法、其性能以及CAGI对我们研究的影响。最后,我们讨论CAGI实验带来的一些可能性,并对未来的实验提出一些建议。