Common centromeric variation associates with molecular and complex traits in humans

Human centromeres harbor extensive structural variation that has remained largely inaccessible to human genetics because their repetitive -satellite arrays are absent from standard reference and imputation panels. Here we catalog 188,589 centromeric structural variants (SVs) from haplotype-resolved long-read assemblies of 196 Human Pangenome Reference Consortium individuals aligned to the telomere-to-telomere CHM13 reference. Resolving recurrent SVs into monophyletic components along centromeric haplotype phylogenies makes them imputable from pericentromeric SNPs (mean R2CV = 0.407 vs. 0.065 u

This content is for informational purposes only and is not medical advice. It is not intended to diagnose, treat, cure, or prevent any disease. Consult a healthcare professional before starting any supplement, treatment, or program — especially if you are pregnant, nursing, taking medication, or managing a health condition.