Computational Systems Biology Lab, Department of Bioinformatics, Shantou University Medical College (SUMC), No. 22, Xinling Road, Shantou 515041, China.
Bio-key Health Technologies Co., Ltd., No.9, Huaqiang, Road, Tianhe District, Guangzhou 510630, China.
Genes (Basel). 2019 Jul 10;10(7):519. doi: 10.3390/genes10070519.
Recent analyses show that transcriptome sequencing can be utilized as a diagnostic tool for rare Mendelian diseases. The third generation sequencing de novo detects long reads of thousands of base pairs, thus greatly expanding the isoform discovery and identification of novel long noncoding RNAs. In this study, we developed TGStools, a bioinformatics suite to facilitate routine tasks such as characterizing full-length transcripts, detecting shifted types of alternative splicing, and long noncoding RNAs (lncRNAs) identification in transcriptome analysis. It also prioritizes the transcripts with a visualization framework that automatically integrates rich annotation with known genomic features. TGStools is a Python package freely available at Github.
最近的分析表明，转录组测序可用作罕见孟德尔疾病的诊断工具。第三代测序从头开始检测数千个碱基对的长读长，从而大大扩展了新型长非编码 RNA 的异构体发现和鉴定。在这项研究中，我们开发了 TGStools，这是一个生物信息学套件，用于促进常规任务，如全长转录本的特征描述、检测替代剪接的移位类型，以及转录组分析中长非编码 RNA（lncRNA）的鉴定。它还通过可视化框架对具有优先级的转录本进行排序，该框架自动将丰富的注释与已知的基因组特征集成在一起。TGStools 是一个 Python 包，可在 Github 上免费获得。
