相关实验视频

Updated: Jul 15, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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FexSplice:一种基于LightGBM的模型,用于预测单个核酸变体的剪接效应,该变体会影响前子的第一个核酸G

Atefeh Joudaki1, Jun-Ichi Takeda1, Akio Masuda1

  • 1Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya 466-8550, Japan.

Genes
|September 28, 2023
PubMed
概括

第一个外体核酸中的单核酸变体 (Fex-SNVs) 可以改变mRNA前拼接. 一个新的机器学习模型,FexSplice,根据序列特征预测拼接效应,帮助疾病变异分析.

关键词:
FexSplice 是一个网络服务程序.轻GBM型号的模型一个exon的第一个核酸.影响拼接的变种.

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