Benchmarking deep learning splice prediction tools using functional splice assays
نویسندگان
چکیده
منابع مشابه
Splice Form Prediction using Machine Learning
For modern biology, precise genome annotations are of prime importance as they allow the accurate definition of genic regions. However, accurate ab initio gene finding is still a major challenge in computational biology. We employed state-of-the-art machine learning methods to assess and improve the accuracy of genome annotations. Our system is trained to recognize exons and introns on the unsp...
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A eukaryotic gene consists of multiple exons (protein coding regions) and introns (non-coding regions), and a splice junction refers to the boundary between a pair of exon and intron. Precise identification of spice junctions on a gene is important for deciphering its primary structure, function, and interaction. Experimental techniques for determining exon/intron boundaries include RNA-seq, wh...
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Since the start of the Human Genome Project, a large amount of sequence data has been generated. These data need to be analyzed. One of the main analysis to be carried out is the identification of regions of these sequences that correspond to genes. For such, one can search for particular signals associated with gene expression. Among the searched signals are the splice junctions. This recognit...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2021
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.24212