Lin Fan

GWAS SVatalog identifies structural variations linked to GWAS loci by visualizing LD between SVs and SNPs across 14,479 phenotypes.

This study uses bulk RNA sequencing on postmortem human eye tissue to identify gene and pathway changes associated with progression from intermediate to late-stage AMD, highlighting potential therapeutic targets.

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.