Article

A Deep Learning approach predicts the impact of point mutations in intronic flanking regions on micro-exon splicing definition

2019-12-07

Abstract excerpt

While mammalian exons are on average 140-nt-long, thousands of human genes harbor micro-exons (≤ 39 nt). Large numbers of micro-exons have their splicing altered in diseases such as autism and cancer, and yet there is no systematic assessment of the impact of point mutations in intronic flanking-sequences on the splicing of a neighboring micro-exon. Here, we constructed a model using the Convolutional Neural Netwo...

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Literature Corpus work: c790fd43-2c6f-5ff2-b027-c351e2676dce
DOI: 10.1101/868786

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