Mehrdad Bakhtiari

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

adVNTR is a method for genotyping Variable Number Tandem Repeats using Hidden Markov Models, applicable to short-read and single molecule sequencing data.

AmpliconArchitect reconstructs focal amplifications in cancer genomes, revealing novel insights into extrachromosomal mechanisms and oncoviral pathogenesis.