Lucija Klarić

The paper identifies 505 protein quantitative trait loci (pQTL) in a Scottish cohort, linking proteins to complex traits and diseases, and highlights potential drug targets.

The paper investigates epitope effects in pQTL studies, finding that only 12% or less of cis-pQTL results are influenced by missense-mediated epitope effects.

The paper returns actionable genetic results to 4,198 Scottish volunteers from the Viking Genes cohort, identifying 108 actionable genotypes in 23 genes and notifying 64 participants.

The paper identifies two founder BRCA variants in Orkney and Shetland populations, accounting for 93.5% of pathogenic BRCA alleles.

The paper identifies 16 genomic loci associated with IgG galactosylation through GWAS and validates three genes using CRISPR/dCas9 in an in vitro system.

The paper identifies a BRCA1 founder variant in Orcadians and estimates its high prevalence, suggesting population screening for this variant.

The paper uses exome sequencing to identify rare variants in glycosyltransferase genes affecting transferrin and IgG glycosylation, linking them to disease-related traits.

The paper identifies sex-specific genetic loci associated with plasma bile acid levels using GWAS in a population-based cohort.

The paper identifies genetic loci regulating glycosylation of transferrin and IgG, finding both shared and protein-specific associations and proposing tissue-specific transcription factor regulation.

The paper develops eleven omics-based biological age clocks with strong correlations to chronological age and shows their association with disease risk.

This study identifies 592 genetic loci associated with 184 plasma proteins in 26,494 individuals and finds causal relationships between protein levels and disease.

In 159,701 siblings from 17 cohorts, population GWAS overstate direct effects on height, education, smoking, cognition, depressive symptoms and age at first birth; clinical traits mostly agree across models.

The paper identifies SNPs with sex-specific effects on lung function traits using UK Biobank data, finding a significant interaction at rs7697189 near HHIP.

The paper analyzes whole genome sequencing data from an isolated Shetland population, finding increased ultra-rare variants in exonic and regulatory regions compared to mainland Scottish populations.

This study identifies twelve genetic loci associated with human blood plasma N-glycome composition through genome-wide association analysis, revealing both direct and indirect genetic influences on glycosylation.