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

Deciphering the impact of genetic variation on human polyadenylation using APARENT2.

Genome biology - 5 Nov 2022

Linder Johannes, Koplik Samantha E, Kundaje Anshul, Seelig Georg

Abstract excerpt

BACKGROUND: 3'-end processing by cleavage and polyadenylation is an important and finely tuned regulatory process during mRNA maturation. Numerous genetic variants are known to cause or contribute to human disorders by disrupting the cis-regulatory code of polyadenylation signals. Yet, due to the complexity of this code, variant interpretation remains challenging. RESULTS: We introduce a residual neural network...

Read the complete abstract on PubMed

Topics

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

Share to 3' Untranslated Regions
Share to Autism Spectrum Disorder
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Polyadenylation

Share to RNA Stability

Share to Transcriptome

Source

Open in PubMed Open full text

Identifiers

PMID: 36335397
DOI: 10.1186/s13059-022-02799-4
PMCID: PMC9636789

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Deciphering the impact of genetic variation on human polyadenylation using APARENT2.PMID 36335397Read ↗

Deciphering the Impact of Genetic Variation on Human PolyadenylationSemantic proximity Read ↗

Predicting the Impact of cis-Regulatory Variation on Alternative PolyadenylationSemantic proximity Read ↗

Inference of the Human Polyadenylation CodeSemantic proximity Read ↗

PolyAMiner-Bulk: A Machine Learning Based Bioinformatics Algorithm to Infer and Decode Alternative Polyadenylation Dynamics from bulk RNA-seq dataSemantic proximity Read ↗

Genome-Wide Analysis Reveals a Role of 3’-untranslated Region Variants Affecting Cleavage and Polyadenylation in Undiagnosed Rare DisordersSemantic proximity Read ↗

Genetic Basis of Alternative Polyadenylation is an Emerging Molecular Phenotype for Human Traits and DiseasesSemantic proximity Read ↗

Terminitor: Cleavage Site Prediction Using Deep Learning ModelsSemantic proximity Read ↗

<i>In-silico</i> modeling and interpretation of RBP binding disentangle m <sup>6</sup> A-RBP interactionSemantic proximity Read ↗

Impact of Rare Non-coding Variants on Human Diseases through Alternative Polyadenylation OutliersSemantic proximity Read ↗

Allele-specific alternative polyadenylation links noncoding genetic variation to Alzheimer’s disease riskSemantic proximity Read ↗

Systematic identification of functional SNPs interrupting 3'UTR polyadenylation signals.Semantic proximity Read ↗

Systematic identification of functional SNPs interrupting 3’ UTR polyadenylation signalsSemantic proximity Read ↗

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