Discover Community Create You

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

The Expanding Landscape of Alternative Splicing Variation in Human Populations.

American journal of human genetics - 4 Jan 2018

Park Eddie, Pan Zhicheng, Zhang Zijun, Lin Lan, Xing Yi

Abstract excerpt

Alternative splicing is a tightly regulated biological process by which the number of gene products for any given gene can be greatly expanded. Genomic variants in splicing regulatory sequences can disrupt splicing and cause disease. Recent developments in sequencing technologies and computational biology have allowed researchers to investigate alternative splicing at an unprecedented scale and resolution....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Disease
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetics, Population

Share to Machine Learning

Share to Quantitative Trait Loci

Share to Sequence Analysis, RNA

Share to Transcriptome

Source

Open in PubMed Open full text

Identifiers

PMID: 29304370
DOI: 10.1016/j.ajhg.2017.11.002
PMCID: PMC5777382

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Expanding Landscape of Alternative Splicing Variation in Human Populations.PMID 29304370Read ↗

Genetic variation of pre-mRNA alternative splicing in human populations.Semantic proximity Read ↗

A genomic view of alternative splicing.Semantic proximity Read ↗

Genomics of alternative splicing: evolution, development and pathophysiology.Semantic 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 ↗

Fine-scale variation and genetic determinants of alternative splicing across individuals.Semantic proximity Read ↗

Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options.Semantic proximity Read ↗

The relevance of alternative RNA splicing to pharmacogenomics.Semantic proximity Read ↗

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

Variants affecting exon skipping contribute to complex traits.Semantic proximity Read ↗

GLiMMPS: robust statistical model for regulatory variation of alternative splicing using RNA-seq data.Semantic proximity Read ↗

Massively parallel assay of human splice variants reveals cis-regulatory drivers of disease-associated and cell type-specific splicing regulationSemantic proximity Read ↗

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