Franjo Ivankovic

Rare coding variation implicates thirteen genes in bipolar disorder across 232,536 individuals from global populations

A 515,579-Genome Reference Panel Improves Rare-Variant Imputation Across Multiple Underrepresented Populations

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: A Proximity-Based Probe-Matching Algorithm for Joint Analysis of Copy-Number Variants from Different Genotyping Arrays

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

Genome-Wide Association Analysis of Tic Disorders Reveals 6 Independent Risk Loci and Highlights Tic-Associated Cell Types and Brain Circuitry

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

Distinct patterns of de novo coding variants contribute to Tourette Syndrome etiology

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

The landscape of gene loss and missense variation across the mammalian tree informs on gene essentiality

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: A comprehensive annotation of mouse RNA-Seq datasets with perturbations of RNA-binding proteins

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

SFMetaDB: A Comprehensive Annotation of Mouse RNA Splicing Factor RNA-Seq Datasets

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