The hub shows association of copy number changes of VNTRs (Variable Number Tander Repeat) with local gene expression and CpG methylation in two discovery cohorts ane one replication cohort for which PCR-free Illumina WGS data were available.

Discovery Cohort

Replication Cohort

Result Summary

Replication of the majority of significant eVNTRs and mVNTRs in an independent cohort.

Replication Results

We observed that 73% of significant eVNTRs detected in GTEx whole blood were also identified as significant in the PPMI cohort. Similarly, 80% of significant mVNTRs detected in the PCGC discovery cohort were also significant in the PPMI cohort.


The manuscript is currently under review. A copy of the manuscript is available here: