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Research square. 2026-08-06;

Structural variants contribute substantially to complex trait heritability

Nguyen DT, Shadrin AA, Parker N, Fuhrer J, Vo NS, Dale AM, Andreassen OA, Frei O

PMID: 42620576

Abstract

Despite accumulating evidence that structural variants (SVs) exert disproportionate functional effects, their genome-wide contribution to complex trait heritability has not yet been systematically quantified. Here, we introduce MiXeR-SV, a tool that integrates long-read-derived SVs from existing reference catalogs with genome-wide association summary statistics to quantify SV heritability and enrichment.

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