Higher Technical School of Computer Engineering, University of Vigo, Ourense, Spain.
Nucleic Acids Res. 2011 Jul;39(Web Server issue):W562-6. doi: 10.1093/nar/gkr439. Epub 2011 Jun 6.
Next-generation sequencing (NGS) technologies are making sequence data available on an unprecedented scale. In this context, new catalogs of Single Nucleotide Polymorphism and mutations generated by resequencing studies are usually stored in genome position files (e.g. Variant Call Format, SAMTools pileup, BED, GFF) comprising of large lists of genomic positions, which are difficult to handle by researchers. Here, we present PileLineGUI, a novel desktop application primarily designed for manipulating, browsing and analysing genome position files (GPF), with specific support to somatic mutation finding studies. The developed tool also integrates a new genome browser module specially designed for inspecting GPFs. PileLineGUI is free, multiplatform and designed to be intuitively used by biomedical researchers. PileLineGUI is available at: http://sing.ei.uvigo.es/pileline/pilelinegui.html.
下一代测序（NGS）技术正在以前所未有的规模提供序列数据。在这种情况下，通过重测序研究产生的单核苷酸多态性和突变的新目录通常存储在基因组位置文件（例如变体调用格式、SAMTools 堆积、BED、GFF）中，这些文件包含大量基因组位置列表，研究人员很难处理。在这里，我们介绍了 PileLineGUI，这是一款专为处理、浏览和分析基因组位置文件（GPF）而设计的新型桌面应用程序，特别支持体细胞突变发现研究。开发的工具还集成了一个专门为检查 GPF 而设计的新基因组浏览器模块。PileLineGUI 是免费的、跨平台的，旨在供生物医学研究人员直观使用。PileLineGUI 可在以下网址获得：http://sing.ei.uvigo.es/pileline/pilelinegui.html。
