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POSTRE: a tool to predict the pathological effects of human structural variants.

Nucleic acids research - 22 May 2023

Sánchez-Gaya Víctor, Rada-Iglesias Alvaro

Abstract excerpt

Understanding the pathological impact of non-coding genetic variation is a major challenge in medical genetics. Accumulating evidences indicate that a significant fraction of genetic alterations, including structural variants (SVs), can cause human disease by altering the function of non-coding regulatory elements, such as enhancers. In the case of SVs, described pathomechanisms include changes in enhancer dosage...

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Identifiers

PMID: 36999617
DOI: 10.1093/nar/gkad225
PMCID: PMC10201441

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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.

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