Jonghun Park

The paper benchmarks small and large variants in tandem repeats across 86 samples, creating a benchmark dataset and comparison method for TR variant calling.

The paper creates a deep population reference panel of tandem repeat variation using whole genome sequencing and develops a method to genotype over 1.7 million TR loci, identifying novel eQTL signals and a phased haplotype panel for imputation.

The paper identifies pathogenic variants in tubulointerstitial kidney disease genes in 12.5% of a CKD cohort using targeted sequencing and clinical criteria.

The paper develops adVNTR-NN to genotype VNTRs efficiently and identifies eVNTR loci associated with gene expression in multiple tissues.