Next-generation diagnostics and disease-gene discovery with the Exomiser.
Next-generation diagnostics and disease-gene discovery with the Exomiser.
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DOI：
10.1038/nprot.2015.124
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发表时间：
2015-12
期刊：
影响因子：
14.8
通讯作者：
Robinson PN
中科院分区：
文献类型：
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作者：
Smedley D;Jacobsen JO;Jäger M;Köhler S;Holtgrewe M;Schubach M;Siragusa E;Zemojtel T;Buske OJ;Washington NL;Bone WP;Haendel MA;Robinson PN
Exomiser是一种应用程序，可在下一代测序（NGS）项目中优先考虑基因和变体，用于新疾病基因发现或孟德尔疾病的鉴别诊断。Exomiser包括一套用于使用蛋白质相互作用网络的随机游走分析、临床相关性和跨物种表型比较对外显子组序列进行优先排序的算法，以及用于变体频率、预测致病性和谱系分析的各种其他计算过滤器。在本协议中，我们详细解释了如何安装Exomiser并使用它在许多情况下对外显子组序列进行优先级排序。Exomiser在标准台式计算机上需要约3 GB的RAM和大约15-90秒的计算时间来分析变体调用格式（VCF）文件。Exomiser可从http://www.sanger.ac.uk/science/tools/exomiser免费获得供学术使用。
Exomiser is an application that prioritizes genes and variants in next-generation sequencing (NGS) projects for novel disease-gene discovery or differential diagnostics of Mendelian disease. Exomiser comprises a suite of algorithms for prioritizing exome sequences using random-walk analysis of protein interaction networks, clinical relevance and cross-species phenotype comparisons, as well as a wide range of other computational filters for variant frequency, predicted pathogenicity and pedigree analysis. In this protocol, we provide a detailed explanation of how to install Exomiser and use it to prioritize exome sequences in a number of scenarios. Exomiser requires ~3 GB of RAM and roughly 15–90 s of computing time on a standard desktop computer to analyze a variant call format (VCF) file. Exomiser is freely available for academic use from http://www.sanger.ac.uk/science/tools/exomiser.