Karol Bomsztyk

Identification of functional non-coding variants associated with orofacial cleft

This study identifies functional non-coding variants associated with orofacial cleft by combining GWAS, reporter assays, and stem cell modeling.

Analysis of gliomas DNA methylation: Assessment of pre-analytical variables.

This study assesses how pre-analytical variables affect DNA methylation analysis of the MGMT promoter in gliomas, finding that most variations do not significantly impact results but intratumor heterogeneity is prevalent.

High incidence and geographic distribution of cleft palate cases in Finland are associated with a regulatory variant in IRF6

The paper identifies a regulatory variant in IRF6 associated with increased cleft palate risk in Finland and shows it disrupts IRF6 enhancer function.

Regulation of Versican Expression in Macrophages is Mediated byCanonical Type I Interferon Signaling via ISGF3

This study identifies canonical type I interferon signaling via ISGF3 as the mechanism regulating versican expression in macrophages exposed to LPS.

CryoGrid-PIXUL-RNA: High throughput RNA isolation platform for tissue transcript analysis

The paper introduces a low-cost system for high-throughput RNA isolation from tissues, combining CryoGrid for storage/sampling with PIXUL-based methods using a PK buffer to enable efficient transcript analysis.

MultiomicsTracks96: A high throughput PIXUL-Matrix-based toolbox to profile frozen and FFPE tissues multiomes

The paper introduces MultiomicsTracks96, a high-throughput multi-omics workflow for analyzing frozen and FFPE tissues, showing high correlation between data types and improved protein prediction using multi-omics data.

Computer Designed PRC2 Inhibitor, EBdCas9, Reveals Functional TATA boxes in Distal Promoter Regions

The paper uses a computationally designed PRC2 inhibitor, EBdCas9, to identify functional TATA boxes in distal promoter regions and demonstrate their role in gene activation.