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.
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http://dx.doi.org/10.3390/genes10070519 | DOI Listing |
Genes (Basel)
July 2019
Computational Systems Biology Lab, Department of Bioinformatics, Shantou University Medical College (SUMC), No. 22, Xinling Road, Shantou 515041, China.
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.
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