Juozas Kupčinskas

Resolving inflammatory bowel disease risk variants to genes and cell types

This study identifies 619 IBD risk signals, resolves 81 high-confidence variants, and prioritizes 664 candidate effector genes using GWAS, eQTL, and exome sequencing.

Exome sequencing directly implicates 68 genes in inflammatory bowel disease

This study uses exome and genome sequencing to identify 68 genes directly associated with inflammatory bowel disease, providing clearer genetic insights and therapeutic targets.

Quantifying The Impact of Bulk TCR-Seq Methodological Choices on The Profiled T Cell Repertoire

This study evaluates how methodological choices in bulk TCR-Seq affect T cell repertoire profiling, finding that RNA/DNA quality significantly impacts results and that low quantities can be partially compensated by increasing PCR cycles.

Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

Genome-wide analysis of 944,133 individuals provides insights into the etiology of hemorrhoidal disease

This study performs a genome-wide association analysis of hemorrhoidal disease in 944,133 individuals, identifying 102 risk loci and linking them to vascular and tissue development pathways.