The Seaver Autism Center for Research and Treatment, Department of Psychiatry, Levy Library, Mount Sinai School of Medicine, New York, NY 10029, USA.
Bioinformatics. 2012 Mar 1;28(5):724-5. doi: 10.1093/bioinformatics/bts032. Epub 2012 Jan 18.
AnnTools is a versatile bioinformatics application designed for comprehensive annotation of a full spectrum of human genome variation: novel and known single-nucleotide substitutions (SNP/SNV), short insertions/deletions (INDEL) and structural variants/copy number variation (SV/CNV). The variants are interpreted by interrogating data compiled from 15 constantly updated sources. In addition to detailed functional characterization of the coding variants, AnnTools searches for overlaps with regulatory elements, disease/trait associated loci, known segmental duplications and artifact prone regions, thereby offering an integrated and comprehensive analysis of genomic data. The tool conveniently accepts user-provided tracks for custom annotation and offers flexibility in input data formats. The output is generated in the universal Variant Call Format. High annotation speed makes AnnTools suitable for high-throughput sequencing facilities, while a low-memory footprint and modest CPU requirements allow it to operate on a personal computer. The application is freely available for public use; the package includes installation scripts and a set of helper tools.
http://anntools.sourceforge.net/.
Supplementary data are available at Bioinformatics online.
AnnTools 是一款功能多样的生物信息学应用程序，旨在全面注释人类基因组的全谱变异：新的和已知的单核苷酸替换（SNP/SNV）、短插入/缺失（INDEL）和结构变异/拷贝数变异（SV/CNV）。通过查询从 15 个不断更新的来源编译的数据来解释这些变体。除了对编码变体进行详细的功能描述外，AnnTools 还会搜索与调控元件、疾病/特征相关的基因座、已知的片段重复和易出错区域的重叠，从而对基因组数据进行综合全面的分析。该工具方便地接受用户提供的自定义注释轨道，并提供输入数据格式的灵活性。输出以通用的变异调用格式生成。高注释速度使 AnnTools 适用于高通量测序设施，而低内存占用和适度的 CPU 要求使其能够在个人计算机上运行。该应用程序可供公众免费使用；该软件包包括安装脚本和一组辅助工具。
http://anntools.sourceforge.net/。
补充数据可在 Bioinformatics 在线获得。
