Comparative Analysis and Classification of Cassette Exons and Constitutive Exons [electronic resource]

• Ngôn ngữ: eng
• Ký hiệu phân loại: 574.87 [Unassigned]
• Thông tin xuất bản: Idaho Falls, Idaho : Oak Ridge, Tenn. : Idaho National Laboratory ; Distributed by the Office of Scientific and Technical Information, U.S. Dept. of Energy, 2017
• Mô tả vật lý: Size: Article N7323508 : , digital, PDF file.
• Bộ sưu tập: Metadata
• ID: 260312
• Chủ đề: 1. 60 applied life sciences; 2. Biotechnology & applied microbiology; 3. Research & experimental medicine

Tóm tắt

Alternative splicing (AS) is a major engine that drives proteome diversity in mammalian genomes and is a widespread cause of human hereditary diseases. More than 95% of genes in the human genome are alternatively spliced, and the most common type of AS is the cassette exon. Recent discoveries have demonstrated that the cassette exon plays an important role in genetic diseases. To discover the formation mechanism of cassette exon events, we statistically analyze cassette exons and find that cassette exon events are strongly influenced by individual exons that are smaller in size and that have a lower GC content, more codon terminations, and weaker splice sites. We propose an improved random-forest-based hybrid method of distinguishing cassette exons from constitutive exons. Our method achieves a high accuracy in classifying cassette exons and constitutive exons and is verified to outperform previous approaches. It is anticipated that this study will facilitate a better understanding of the underlying mechanisms in cassette exons.