Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants
复制标题
威尔逊病中复杂的 ATP7B 突变模式以及用于变异功能分析的酵母模型的评估
DOI：
10.1002/humu.23714
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发表时间：
2019-05-01
期刊：
影响因子：
3.9
通讯作者：
Huang, Jian
中科院分区：
文献类型：
--
作者：
Li, Xiaojin;Zhang, Wei;Huang, Jian
资助信息NIH，拨款/奖励编号：U41 HG007346，R13 HG006650通常采用计算机技术中的摘要方法来预测基因变异的影响及其与疾病的关系。基因组解释的关键评估(CAGI)为评估特定问题的变异效应的现有预测因子建立了一个共同的框架，我们小组自第一版以来一直是CAGI的积极参与者。在本文中，我们总结了我们从上一版实验(CAGI-5)中获得的经验和教训。特别是，我们分析了我们的工具在五个CAGI-5精选挑战上的预测性能，这些挑战分为三个不同的类别：对蛋白质稳定性的变异影响的预测，对变异致病性的预测，以及对复杂功能效应的预测。对于每个挑战，我们都会详细分析我们工具的性能，突出它们的潜力和缺陷。其目的是更好地定义每个工具的应用程序边界。
Funding information NIH, Grant/Award Numbers: U41 HG007346, R13 HG006650 Abstract In silico approaches are routinely adopted to predict the effects of genetic variants and their relation to diseases. The critical assessment of genome interpretation (CAGI) has established a common framework for the assessment of available predictors of variant effects on specific problems and our group has been an active participant of CAGI since its first edition. In this paper, we summarize our experience and lessons learned from the last edition of the experiment (CAGI‐5). In particular, we analyze prediction performances of our tools on five CAGI‐5 selected challenges grouped into three different categories: prediction of variant effects on protein stability, prediction of variant pathogenicity, and prediction of complex functional effects. For each challenge, we analyze in detail the performance of our tools, highlighting their potentialities and drawbacks. The aim is to better define the application boundaries of each tool.