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Article

A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci.

Genome research - 1 Apr 2022

van Bree Elisabeth J, Guimarães Rita L F P, Lundberg Mischa, Blujdea Elena R, Rosenkrantz Jimi L, White Fred T G, Poppinga Josse, Ferrer-Raventós Paula, Schneider Anne-Fleur E, Clayton Isabella, Haussler David, Reinders Marcel J T, Holstege Henne, Ewing Adam D, Moses Colette, Jacobs Frank M J

Abstract excerpt

Genome-wide association studies (GWAS) have been highly informative in discovering disease-associated loci but are not designed to capture all structural variations in the human genome. Using long-read sequencing data, we discovered widespread structural variation within SINE-VNTR-Alu (SVA) elements, a class of great ape-specific transposable elements with gene-regulatory roles, which represents a major source of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 35332097
DOI: 10.1101/gr.275515.121
PMCID: PMC8997352

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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