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- Through characterizing detected outliers and corresponding gene sets, we are able to identify which gene sets tend to be aberrantly expressed and which individuals show deviant gene expression within a population.
www.ncbi.nlm.nih.gov/pmc/articles/PMC4305293/
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Jun 12, 2017 · We present a step-by-step protocol that details how to robustly detect aberrant expression levels, aberrant splicing and mono-allelic expression in RNA-seq data using dedicated...
- Nature
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- Detection of aberrant splicing events in RNA-seq data using ...
Here, we develop FRASER, an algorithm to detect aberrant...
- Nature
We present a step-by-step protocol that details how to robustly detect aberrant expression levels, aberrant splicing and mono-allelic expression in RNA-seq data using dedicated statistical methods. We describe how to generate and assess quality control plots and interpret the analysis results.
- Vicente A. Yépez, Vicente A. Yépez, Christian Mertes, Michaela F. Müller, Daniela Klaproth-Andrade, ...
- 2021
Jan 22, 2021 · Here, we develop FRASER, an algorithm to detect aberrant splicing from RNA sequencing data. Unlike existing methods, FRASER captures not only alternative splicing but also intron retention...
- Christian Mertes, Ines F. Scheller, Vicente A. Yépez, Vicente A. Yépez, Muhammed H. Çelik, Yingjiqio...
- 2021
Dec 6, 2018 · A powerful approach is to identify aberrant gene expression levels as potential pathogenic events. However, existing methods for detecting aberrant read counts in RNA-seq data either lack assessments of statistical significance, so that establishing cutoffs is arbitrary, or rely on subjective manual corrections for confounders.
- Felix Brechtmann, Christian Mertes, Agnė Matusevičiūtė, Vicente A. Yépez, Žiga Avsec, Žiga Avsec, Ma...
- 2018
Sep 5, 2022 · Transcriptome analysis facilitates genome-wide interpretation of DNA variants, specifically three aberrant events can be analyzed: aberrant expression, aberrant splicing, allelic imbalance, or allele-specific expression.
Aug 23, 2023 · Abstract. Main vignette for the saseR package. This vignette aims to provide a detailed description of an aberrant expression and splicing analysis using saseR. Also, we show how to perform differential usage analysis using adapted offsets in DESeq2 and edgeR.
Nov 29, 2013 · Methods. We systematically evaluated several methods including variations on the nearest neighbor based outlying degree method, as well as the Zscore and a robust variant for their suitability to detect patient-specific events.
