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Article

The contribution of silencer variants to human diseases.

Genome biology - 8 Jul 2024

Huang Di, Ovcharenko Ivan

Abstract excerpt

BACKGROUND: Although disease-causal genetic variants have been found within silencer sequences, we still lack a comprehensive analysis of the association of silencers with diseases. Here, we profiled GWAS variants in 2.8 million candidate silencers across 97 human samples derived from a diverse panel of tissues and developmental time points, using deep learning models. RESULTS: We show that candidate silencers...

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Share to Schizophrenia
Share to Silencer Elements, Transcriptional
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

Source

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Identifiers

PMID: 38978133
DOI: 10.1186/s13059-024-03328-1
PMCID: PMC11232194

Genes

MAL
TRIM31

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.

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