Inference of isoforms from short sequence reads

J Feng, W Li, T Jiang - Journal of computational biology, 2011 - liebertpub.com
Due to alternative splicing events in eukaryotic species, the identification of mRNA isoforms
(or splicing variants) is a difficult problem. Traditional experimental methods for this purpose …

Efficient and accurate quantitative profiling of alternative splicing patterns of any complexity on a laptop

T Sterne-Weiler, RJ Weatheritt, AJ Best, KCH Ha… - Molecular cell, 2018 - cell.com
Alternative splicing (AS) is a widespread process underlying the generation of transcriptomic
and proteomic diversity and is frequently misregulated in human disease. Accordingly, an …

GLiMMPS: robust statistical model for regulatory variation of alternative splicing using RNA-seq data

K Zhao, Z Lu, JW Park, Q Zhou, Y Xing - Genome biology, 2013 - Springer
To characterize the genetic variation of alternative splicing, we develop GLiMMPS, a robust
statistical method for detecting splicing quantitative trait loci (sQTLs) from RNA-seq data …

Demystifying “drop-outs” in single-cell UMI data

TH Kim, X Zhou, M Chen - Genome biology, 2020 - Springer
Many existing pipelines for scRNA-seq data apply pre-processing steps such as
normalization or imputation to account for excessive zeros or “drop-outs." Here, we …

PSI-Sigma: a comprehensive splicing-detection method for short-read and long-read RNA-seq analysis

KT Lin, AR Krainer - Bioinformatics, 2019 - academic.oup.com
Abstract Motivation Percent Spliced-In (PSI) values are commonly used to report alternative
pre-mRNA splicing (AS) changes. Previous PSI-detection tools were limited to specific AS …

Sierra: discovery of differential transcript usage from polyA-captured single-cell RNA-seq data

R Patrick, DT Humphreys, V Janbandhu, A Oshlack… - Genome biology, 2020 - Springer
High-throughput single-cell RNA-seq (scRNA-seq) is a powerful tool for studying gene
expression in single cells. Most current scRNA-seq bioinformatics tools focus on analysing …

Analysis of intronic and exonic reads in RNA-seq data characterizes transcriptional and post-transcriptional regulation

D Gaidatzis, L Burger, M Florescu, MB Stadler - Nature biotechnology, 2015 - nature.com
RNA-seq experiments generate reads derived not only from mature RNA transcripts but also
from pre-mRNA. Here we present a computational approach called exon-intron split analysis …

Mapping and quantifying mammalian transcriptomes by RNA-Seq

A Mortazavi, BA Williams, K McCue, L Schaeffer… - Nature …, 2008 - nature.com
We have mapped and quantified mouse transcriptomes by deeply sequencing them and
recording how frequently each gene is represented in the sequence sample (RNA-Seq) …

User-friendly, scalable tools and workflows for single-cell RNA-seq analysis

P Moreno, N Huang, JR Manning, S Mohammed… - Nature …, 2021 - nature.com
To the Editor—As single-cell RNA sequencing (scRNA-seq) becomes widespread,
accessible and scalable computational pipelines for data analysis are needed. We introduce …

scImpute: accurate and robust imputation for single cell RNA-seq data

WV Li, JJ Li - BioRxiv, 2017 - biorxiv.org
The emerging single cell RNA sequencing (scRNA-seq) technologies enable the
investigation of transcriptomic landscapes at single-cell resolution. The analysis of scRNA …