Broseus Lucile, Ritchie William
IGH, Centre National de la Recherche Scientifique, University of Montpellier, Montpellier, France.
Comput Struct Biotechnol J. 2020 Feb 26;18:501-508. doi: 10.1016/j.csbj.2020.02.010. eCollection 2020.
Intron retention (IR) occurs when an intron is transcribed into pre-mRNA and remains in the final mRNA. An increasing body of literature has demonstrated a major role for IR in numerous biological functions and in disease. Here we give an overview of the different computational approaches for detecting IR events from sequencing data. We show that these are based on different biological and computational assumptions that may lead to dramatically different results. We describe the various approaches for mitigating errors in detecting intron retention and for discovering IR signatures between different conditions.
内含子保留（IR）是指内含子转录成前体mRNA后仍保留在最终的mRNA中。越来越多的文献表明，内含子保留在众多生物学功能和疾病中发挥着重要作用。在此，我们概述了从测序数据中检测内含子保留事件的不同计算方法。我们发现这些方法基于不同的生物学和计算假设，可能会导致截然不同的结果。我们描述了在检测内含子保留时减轻误差以及在不同条件之间发现内含子保留特征的各种方法。
