Structural Variants in Linkage Disequilibrium with GWAS-Significant SNPs
Hao LiangiD, Joni C Sedillo, Steven J. SchrodiiD, Akihiro IkedaiD
Abstract
SummaryWith the recent expansion of structural variant identification in the human genome, understanding the role of these impactful variants in disease architecture is critically important. Currently, a large proportion of genome-wide-significant GWAS SNPs are functionally unresolved, raising the possibility that some of these SNPs are associated with disease through linkage disequilibrium with causal structural variants. Hence, understanding the linkage disequilibrium between newly discovered structural variants and statistically significant SNPs may provide a resource for further investigation into disease-associated regions in the genome. Here we present a resource cataloging structural variant-significant SNP pairs in high linkage disequilibrium. AvailabilityAll data files including those detailing SV and GWAS SNP associations and results of GWAS-SNP-SV pairs are available at https://github.com/hliang-SchrodiLab/SV_SNPs.
02 /Specification & Classification
Click any tag to browse matching papers- Citations
- 8
- FWCI
- 2.12
- Field percentile
- top 13%
- Organism
- Assay
- Research Focus
- Approach
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- GWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations
Shalvi Chirmade, Zhuozhi Wang, … Lisa J. Strug·HeredityPeer-reviewed·Nov 7, 2025
- A high-quality reference panel reveals the complexity and distribution of structural genome changes in a human population
Jayne Y. Hehir-Kwa, Tobias Marschall, … Victor Guryev·bioRxiv·Jul 2, 2016
- Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations
Boris Noyvert, Abdullah Mesut Erzurumluoglu, … Zhihao Ding·medRxiv·Dec 20, 2023
- Combining SNP-to-gene linking strategies to pinpoint disease genes and assess disease omnigenicity
Steven Gazal, Omer Weissbrod, … Alkes L. Price·Nature GeneticsPeer-reviewed·Jun 1, 2022
- The impact of structural variation on human gene expression
Colby Chiang, Alexandra J Scott, … Ira M Hall·Nature GeneticsPeer-reviewed·Apr 3, 2017
- Long-read sequencing reveals hidden structural complexity within Alzheimers disease-associated GWAS loci
Niccoló Tesi, Alex Salazar, … Henne H. Holstege·medRxiv·Aug 17, 2026