Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Allele-specific alternative splicing and its functional genetic variants in human tissues.

Genome research - 1 Mar 2021

Amoah Kofi, Hsiao Yun-Hua Esther, Bahn Jae Hoon, Sun Yiwei, Burghard Christina, Tan Boon Xin, Yang Ei-Wen, Xiao Xinshu

Abstract excerpt

Alternative splicing is an RNA processing mechanism that affects most genes in human, contributing to disease mechanisms and phenotypic diversity. The regulation of splicing involves an intricate network of cis-regulatory elements and trans-acting factors. Due to their high sequence specificity, cis-regulation of splicing can be altered by genetic variants, significantly affecting splicing outcomes. Recently,...

Topics

Join the communities discussing this publication.

Alleles
Alternative Splicing
Cell Line
Exons
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genome-Wide Association Study

Linkage Disequilibrium

Organ Specificity

Source

Open in PubMed Open full text

Identifiers

PMID: 33452016
DOI: 10.1101/gr.265637.120
PMCID: PMC7919445

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Allele-specific alternative splicing and its functional genetic variants in human tissues.PMID 33452016Read ↗

Allele-specific alternative splicing in human tissuesSemantic proximity Read ↗

Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genomeSemantic proximity Read ↗

Alternative splicing modulated by genetic variants demonstrates accelerated evolution regulated by highly conserved proteins.Semantic proximity Read ↗

The GTEx Consortium atlas of genetic regulatory effects across human tissuesSemantic proximity Read ↗

Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome.Semantic proximity Read ↗

Genome-wide survey of allele-specific splicing in humans.Semantic proximity Read ↗

Transcriptomic signatures across human tissues identify functional rare genetic variation.Semantic proximity Read ↗

Diverse transcriptomic signatures across human tissues identify functional rare genetic variationSemantic proximity Read ↗

A vast resource of allelic expression data spanning human tissuesSemantic proximity Read ↗

A vast resource of allelic expression data spanning human tissues.Semantic proximity Read ↗

Alternative splicing is coupled to gene expression in a subset of variably expressed genesSemantic proximity Read ↗

Assessing allele-specific expression across multiple tissues from RNA-seq read data.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.