Structural variants in linkage disequilibrium with GWAS-significant SNPs.

ABSTRACT: With 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 genome-wide association study (GWAS) single nucleotide polymorphisms (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 lin

SUBMITTER: Liang H 

PROVIDER: S-EPMC11177133 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature