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Updated: Jan 23, 2026
04:52
Following the Dynamics of Structural Variants in Experimentally Evolved Populations
Published on: February 3, 2023
1.3K
Molecular QTL are enriched for structural variants in a cattle long-read cohort
Xena Marie Mapel1, Alexander S Leonard1, Hubert Pausch2
1Animal Genomics, ETH Zurich, Zurich, Switzerland.
Communications Biology
|January 21, 2026
Summary
Long-read sequencing reveals structural variants (SVs) significantly impact gene expression and splicing in cattle. Improved SV genotyping is essential for understanding complex traits.
Area of Science:
- Genomics
- Molecular Biology
- Animal Genetics
Background:
- Understanding structural variants (SVs) is key to complex trait analysis.
- Long-read sequencing technologies offer improved detection of SVs.
Purpose of the Study:
- To investigate the impact of SVs on gene expression and splicing in cattle.
- To assess the utility of long-read sequencing for identifying SV-driven molecular quantitative trait loci (molQTL).
Main Methods:
- Generated 4.86 terabases of long-read (HiFi) sequencing data from 120 cattle.
- Genotyped small variants and 79.3k SVs.
- Performed association testing with gene expression and splicing data from testis tissue.
Main Results:
- Identified 27.3k molecular QTL (molQTL), with 316 significantly associated with SVs.
- Observed a 2.1-fold enrichment of SVs among expression QTL and 5.6-fold among splicing QTL.
- Enrichment increased substantially when considering SVs in linkage disequilibrium with small variants.
Conclusions:
- SVs profoundly influence gene expression and splicing variation in cattle.
- Long-read sequencing is powerful for SV detection, but improved genotyping is needed.
- This highlights the importance of SVs in dissecting complex traits.
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