Intelligent Systems Laboratory, University of Bristol, Bristol BS8?1UB, UK.
MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8?2BN, UK.
Bioinformatics. 2018 Feb 1;34(3):511-513. doi: 10.1093/bioinformatics/btx536.
We present FATHMM-XF, a method for predicting pathogenic point mutations in the human genome. Drawing on an extensive feature set, FATHMM-XF outperforms competitors on benchmark tests, particularly in non-coding regions where the majority of pathogenic mutations are likely to be found.
The FATHMM-XF web server is available at http://fathmm.biocompute.org.uk/fathmm-xf/, and as tracks on the Genome Tolerance Browser: http://gtb.biocompute.org.uk. Predictions are provided for human genome version GRCh37/hg19. The data used for this project can be downloaded from: http://fathmm.biocompute.org.uk/fathmm-xf/.
mark.rogers@bristol.ac.uk or c.campbell@bristol.ac.uk.
Supplementary data are available at Bioinformatics online.
我们提出了 FATHMM-XF,这是一种预测人类基因组中致病点突变的方法。FATHMM-XF 利用广泛的特征集,在基准测试中优于竞争对手,特别是在大多数致病突变可能被发现的非编码区域。
FATHMM-XF 网络服务器可在 http://fathmm.biocompute.org.uk/fathmm-xf/ 获得,也可在基因组耐受浏览器上作为轨道使用:http://gtb.biocompute.org.uk。预测结果适用于人类基因组版本 GRCh37/hg19。该项目使用的数据可从以下网址下载:http://fathmm.biocompute.org.uk/fathmm-xf/。
mark.rogers@bristol.ac.uk 或 c.campbell@bristol.ac.uk。
补充数据可在生物信息学在线获得。