Naim Panjwani

This study identifies genetic loci associated with impulsivity in juvenile myoclonic epilepsy and links them to synaptic assembly genes and SLCO5A1 function.

The paper uses linked-read sequencing to phase alleles in 477 CF patients, revealing haplotypes that explain disease mechanisms and contribute to understanding complex traits.

The paper identifies VNTRs near SLC9A3 associated with gene expression in CF nasal epithelia and shows their utility in explaining GWAS signals.

The paper introduces a new colocalization method, SS2, to identify the gene responsible for a CF lung disease locus, finding significant colocalization with MUC4.

LocusFocus is a web tool that tests colocalization between GWAS and eQTL data to identify relevant genes and tissues for GWAS loci.