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LocusMasterTE:整合长读长RNA测序可改善转座元件表达的基因座特异性定量分析。

LocusMasterTE: integrating long-read RNA sequencing improves locus-specific quantification of transposable element expression.

作者信息

Lee Sojung, Barbour Jayne A, Tam Yee Man, Yang Haocheng, Huang Yuanhua, Wong Jason W H

机构信息

School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong SAR, China.

Centre for Oncology and Immunology, Hong Kong Science Park, Hong Kong SAR, China.

出版信息

Genome Biol. 2025 Mar 26;26(1):72. doi: 10.1186/s13059-025-03522-9.

Abstract

Transposable elements (TEs) can influence human diseases by disrupting genome integrity, yet their quantification has been challenging due to the repetitive nature of these sequences across the genome. We develop LocusMasterTE, a method that integrates long-read with short-read RNA-seq to increase the accuracy of TE expression quantification. By incorporating fractional transcript per million values from long-read sequencing data into an expectation-maximization algorithm, LocusMasterTE reassigns multi-mapped reads, enhancing accuracy in short-read-based TE quantification. We validate the method with simulated and human datasets. LocusMasterTE may give new insights into TE functions through precise quantification.

摘要

转座元件(TEs)可通过破坏基因组完整性来影响人类疾病,然而由于这些序列在基因组中的重复性,对它们进行定量分析一直具有挑战性。我们开发了LocusMasterTE,这是一种将长读长RNA测序与短读长RNA测序相结合的方法,以提高TE表达定量的准确性。通过将来自长读长测序数据的每百万转录本分数值纳入期望最大化算法,LocusMasterTE重新分配多映射读段,提高了基于短读长的TE定量的准确性。我们用模拟数据集和人类数据集验证了该方法。LocusMasterTE可能通过精确的定量分析为TE的功能提供新的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a2d/11948968/bf556edfa3b5/13059_2025_3522_Fig1_HTML.jpg

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