基于三代测序全长转录组的特异性Isoform识别方法研究及特征分析

转录本Isoform是由基因可变剪切引起的一种常见现象，在基因的表达和调控中发挥着重要作用。基于二代测序的RNA-seq是目前研究转录本Isoform的最主要方法，然而利用RNA-seq的短序列组装完全解析转录本Isoform仍面临一定的困难。相对于RNA-seq技术，基于三代测序的Iso-seq技术具有读长序列长，全长转录本无需组装的明显优势。目前Iso-seq主要用于研究新Isoform、可变剪切和基因融合等问题，而利用Iso-seq从全转录组水平探索特异性Isoform的表达类型和丰度，以及结合多组学解析Isoform的序列特征鲜有报道。因此，本研究提出建立基于三代测序全长转录本的特异性Isoform识别方法，并结合翻译组信息分析Isoform的序列特征，为生物学研究中深入解析基因的转录和翻译调控提供新的方法和研究策略。

Transcript isoform, caused by gene alternative splicing, is a common phenomenon and plays an important role in the gene expression and regulation of biological process. Currently, RNA-seq based on next-generation sequencing is the main technology for isoform research. However, identification of isoform from RNA-seq data is still challenging because of the short reads assembly of full-length transcript. Iso-seq, the third-generation sequencing technology, has a significant advantage over RNA-seq for full-length isoform identification with the long reads capability. At present, the main application of Iso-seq is focused on discovering novel isoform, gene alternative splicing and gene fusion. Nevertheless, the transcriptome-wide isoform expression and its abundance, and the sequence feature analysis by incorporating multi-omics information remains to be further studied. Therefore, this project intend to propose a method for identifying specific isoform based on the full-length transcripts from Iso-seq data, and analyze the isoform sequence feature by incorporating translatomics information. This new method will provide a novel strategy for in-depth analysis of gene transcription and translation in biological research.