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   What are aberrantly expressed genes?

   • Lastly, users can perform case-by-case analyses with the help of different visualizations. Aberrantly expressed genes, or expression outliers, refer to genes with an expression level aberrantly higher or lower in a sample with respect to other samples.

   Detection of aberrant gene expression events in RNA sequencing data

   www.nature.com/articles/s41596-020-00462-5

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   Do non-genetic factors underlie aberrant gene expression?

   • Additional data suggest that non-genetic factors may also underlie aberrant gene expression. Taken together, our findings advance a novel viewpoint relevant to situations wherein common eQTLs fail to predict gene expression when heritable, rare inter-individual variation exists.

   Aberrant gene expression in humans

   pubmed.ncbi.nlm.nih.gov/25617623/

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   Can a modular pipeline detect aberrant gene expression events from patient RNA sequencing?

   • The authors describe a modular pipeline to detect aberrant gene expression events (expression level, splicing and mono-allelic expression) from patient RNA sequencing data, which can complement DNA-based diagnosis by enhancing the functional interpretation of variants.

   Detection of aberrant gene expression events in RNA sequencing data

   www.nature.com/articles/s41596-020-00462-5

   See all results for this question

   Is aberrant splicing a major cause of genetic disorders?

   • Provided by the Springer Nature SharedIt content-sharing initiative Aberrant splicing is a major cause of genetic disorders but its direct detection in transcriptomes is limited to clinically accessible tissues such as skin or body fluids.

   Aberrant splicing prediction across human tissues - Nature

   www.nature.com/articles/s41588-023-01373-3

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   How do you know if a gene is aberrantly spliced?

   • A gene was considered aberrantly spliced if it contained at least one significant splicing outlier reported by the aberrant splicing caller without applying any additional replication or rare variant filter (Extended Data Fig. 4a for FRASER).

   Aberrant splicing prediction across human tissues - Nature

   www.nature.com/articles/s41588-023-01373-3

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   How do you detect aberrant expression?

   • Other methods to detect aberrant expression consist of applying cutoffs on z scores 9, 10 computed after regressing out contributions of hidden confounders estimated by probabilistic estimation of expression residuals (PEER) 24 or surrogate variable analysis (SVA) 9.

   Detection of aberrant gene expression events in RNA sequencing data

   www.nature.com/articles/s41596-020-00462-5

   See all results for this question

2. www.ncbi.nlm.nih.gov › pmc › articlesAberrant Gene Expression in Humans - PMC

   www.ncbi.nlm.nih.gov › pmc › articles

   Jan 24, 2015 · 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.

   • Aberrant gene expression in humans - PubMed

     Our method starts from the identification of outlier...

3. pubmed.ncbi.nlm.nih.gov › 25617623Aberrant gene expression in humans - PubMed

   pubmed.ncbi.nlm.nih.gov › 25617623

   Jan 24, 2015 · Our method starts from the identification of outlier individuals that show markedly different gene expression from the majority of a population, and then reveals the contributions of private SNPs to the aberrant gene expression in these outliers.

   • Author: Yong Zeng, Gang Wang, Ence Yang, Guoli Ji, Candice L. Brinkmeyer-Langford, James J. Cai

   • Publish Year: 2015

4. www.nature.com › articles › s41596/020/00462-5Detection of aberrant gene expression events in RNA ... - Nature

   www.nature.com › articles › s41596/020/00462-5

   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 statistical...

   • Author: Vicente A. Yépez, Vicente A. Yépez, Christian Mertes, Michaela F. Müller, Daniela Klaproth-Andrade, ...

   • Publish Year: 2021

5. www.ncbi.nlm.nih.gov › books › NBK557691Genetics, Chromosome Abnormalities - StatPearls - NCBI Bookshelf

   www.ncbi.nlm.nih.gov › books › NBK557691

   Apr 24, 2023 · A chromosomal abnormality, or chromosomal aberration, is a disorder characterized by a morphological or numerical alteration in single or multiple chromosomes, affecting autosomes, sex chromosomes, or both.

   • Author: Daniel A. Queremel Milani, Prasanna Tadi

   • Published: 2023/04/24

6. www.nature.com › articles › s41588/023/01373-3Aberrant splicing prediction across human tissues | Nature ...

   www.nature.com › articles › s41588/023/01373-3

   May 4, 2023 · AbSplice predicts aberrant splicing for 50 human tissues by integrating sequence-based deep learning models, DNA variation and RNA-seq obtained from accessible tissues.

   • Author: Nils Wagner

7. www.researchgate.net › publication › 271389354(PDF) Aberrant Gene Expression in Humans - ResearchGate

   www.researchgate.net › publication › 271389354

   Jan 24, 2015 · Genetic and non-genetic factors contributing to aberrant expression. To evaluate the contributions of genetic or non-genetic factors in causing aberrant expression, we utilized three...

8. www.ncbi.nlm.nih.gov › pmc › articlesRegulation of RNA Splicing: Aberrant Splicing Regulation and ...

   www.ncbi.nlm.nih.gov › pmc › articles

   Apr 16, 2021 · Cancer cells acquire cancer-specific mechanisms through aberrant splicing regulation to acquire resistance to treatment and to promote malignancy. Splicing regulation involves many factors, such as proteins, non-coding RNAs, and DNA sequences at many steps.