MTSplice 预测基因变异对组织特异性剪接的影响。

IF 12.3 1区生物学 Q1 Agricultural and Biological Sciences

Genome Biology Pub Date : 2021-03-31 DOI:10.1186/s13059-021-02273-7

Jun Cheng, Muhammed Hasan Çelik, Anshul Kundaje, Julien Gagneur

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引用次数: 0

摘要

我们开发了免费开源的多组织剪接（MTSplice）模型，用于预测基因变异对 56 种人体组织中盒式外显子剪接的影响。MTSplice 将模拟组成型调控序列的 MMSplice 与模拟组织特异性调控序列的新神经网络相结合。在预测 GTEx 数据集中大多数组织中与基因变异相关的组织特异性变异方面，MTSplice 优于 MMSplice，其中在脑组织方面的改进最大。此外，MTSplice 还能预测与自闭症相关的新突变富集于大脑中影响剪接的变异。我们预计，MTSplice 将有助于解释与特定组织疾病相关的变异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

MTSplice predicts effects of genetic variants on tissue-specific splicing.

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MTSplice predicts effects of genetic variants on tissue-specific splicing.

We develop the free and open-source model Multi-tissue Splicing (MTSplice) to predict the effects of genetic variants on splicing of cassette exons in 56 human tissues. MTSplice combines MMSplice, which models constitutive regulatory sequences, with a new neural network that models tissue-specific regulatory sequences. MTSplice outperforms MMSplice on predicting tissue-specific variations associated with genetic variants in most tissues of the GTEx dataset, with largest improvements on brain tissues. Furthermore, MTSplice predicts that autism-associated de novo mutations are enriched for variants affecting splicing specifically in the brain. We foresee that MTSplice will aid interpreting variants associated with tissue-specific disorders.

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来源期刊

Genome Biology BIOTECHNOLOGY & APPLIED MICROBIOLOGY-GENETICS & HEREDITY

CiteScore

25.50

自引率

3.30%

发文量

审稿时长

14 weeks

期刊介绍： Genome Biology is a leading research journal that focuses on the study of biology and biomedicine from a genomic and post-genomic standpoint. The journal consistently publishes outstanding research across various areas within these fields. With an impressive impact factor of 12.3 (2022), Genome Biology has earned its place as the 3rd highest-ranked research journal in the Genetics and Heredity category, according to Thomson Reuters. Additionally, it is ranked 2nd among research journals in the Biotechnology and Applied Microbiology category. It is important to note that Genome Biology is the top-ranking open access journal in this category. In summary, Genome Biology sets a high standard for scientific publications in the field, showcasing cutting-edge research and earning recognition among its peers.