Comprehensive and scalable quantification of splicing differences with MntJULiP.

Comprehensive and scalable quantification of splicing differences with MntJULiP.
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DOI:
10.1186/s13059-022-02767-y
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发表时间:
2022-09-14
期刊:
影响因子:
12.3
通讯作者:
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中科院分区:
生物学1区
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用于差异剪接检测的工具未能提供剪接变异的全面且一致的视图。我们提出了MntJULiP,这是一种对两种或多种条件之间的剪接差异进行全面且准确量化的新方法。MntJULiP能够高精度地检测内含子剪接比例的变化以及绝对剪接水平的变化,并且能够发现被其他工具忽视的变异类别。MntJULiP在1398个GTEx大脑样本中鉴定出超过29000个差异剪接的内含子,包括在该数据集中发现的11242个新内含子。MntJULiP具有高度可扩展性,能够在数小时内处理数千个样本,以揭示表型分化的剪接成分。 在线版本包含补充材料,可在10.1186/s13059 - 022 - 02767 - y获取。
Tools for differential splicing detection have failed to provide a comprehensive and consistent view of splicing variation. We present MntJULiP, a novel method for comprehensive and accurate quantification of splicing differences between two or more conditions. MntJULiP detects both changes in intron splicing ratios and changes in absolute splicing levels with high accuracy, and can find classes of variation overlooked by other tools. MntJULiP identifies over 29,000 differentially spliced introns in 1398 GTEx brain samples, including 11,242 novel introns discovered in this dataset. Highly scalable, MntJULiP can process thousands of samples within hours to reveal splicing constituents of phenotypic differentiation. The online version contains supplementary material available at 10.1186/s13059-022-02767-y.
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