Franjo Ivankovic

The paper presents a large reference panel of 515,579 genomes to improve rare-variant imputation across underrepresented populations, enhancing accuracy for variants with frequencies as low as 0.002%.

MarkerMatch improves CNV detection sensitivity across genotyping arrays by matching probes based on proximity, outperforming consensus probe methods.

This study identifies six genome-wide significant risk loci for tic disorders and links genetic risk to specific brain cell types and circuits.

This study identifies distinct rare de novo coding variants associated with Tourette Syndrome, highlighting loss-of-function mutations and novel candidate genes.

This paper introduces GISMO and GISMO-mis metrics to quantify gene loss and missense variation across mammals, identifying essential genes and improving gene-disease associations.

RBPMetaDB compiles and organizes 278 mouse RNA-Seq datasets perturbed by 163 RNA-binding proteins, revealing unexplored proteins and enriched DNA-binding activities.

SFMetaDB curates RNA-Seq datasets for mouse splicing factors, revealing a gap in functional studies and highlighting understudied factors.