Slavé Petrovski

The paper generates disease-specific genetic effect maps on the blood transcriptome for five glomerular diseases using whole genome and transcriptome sequencing data from the CureGN cohort.

The paper identifies non-coding G-quadruplex variants associated with plasma proteins and clinical traits, showing stronger signals when considering G4 stability impacts and integrating with protein-truncating variants.

This study identifies 26,963 individuals with clonal haematopoiesis without known genetic drivers (CH-UD) and finds strong genetic and phenotypic links to other forms of clonal haematopoiesis, implicating TCL1A and epigenetic changes.

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.

The paper uses population-scale whole genome sequencing to identify EBV DNA as a biomarker for respiratory, autoimmune, and cardiovascular diseases and identifies genetic determinants of EBV persistence.

This study shows that genetic diversity improves the performance of intolerance metrics in identifying disease-related genes, with multi-ancestry data outperforming European-only datasets.

The paper identifies plasma proteomic markers linked to polygenic risk of type 2 diabetes and related comorbidities using proteogenomic data from biobanks and clinical trials.

This study identifies genetic determinants of blood gene expression and splicing, linking them to molecular phenotypes and health outcomes through QTL analysis and colocalization.

This paper develops machine learning models to predict neurodevelopmental disorder risk genes using single-cell RNA-seq data and inheritance patterns, achieving high predictive accuracy.

This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.

The paper identifies misexpression of inactive genes in whole blood and links it to nearby rare structural variants using RNA and genome sequencing data.

The paper analyzes CYP2D6 genetic variation across 479,144 UK Biobank genomes, identifying structural and rare variants, and their clinical associations across ancestries.

This study compares clonal haematopoiesis (CH) between admixed Americans and Europeans, finding ancestry-specific genetic factors and lower CH prevalence in admixed populations.

The paper shows the APOL1 p.N264K variant reduces the risk of FSGS and kidney disease in individuals with G2 APOL1 risk alleles.

The paper uses machine learning to identify undiagnosed cases in UK Biobank data, improving gene-disease associations and discovering novel relationships.

The paper maps genetic associations with plasma proteins in 54,306 UK Biobank participants, identifying 10,248 new protein quantitative trait loci (pQTLs) and expanding the genetic architecture of the plasma proteome.

The paper identifies 53 rare variants and 22 genes associated with telomere length using UK Biobank whole-genome sequences, highlighting their role in clonal haematopoiesis and disease.

The paper identifies protein-truncating variants in BSN associated with severe adult-onset obesity, type 2 diabetes, and fatty liver disease, with no effect on childhood adiposity.

The paper identifies a synonymous mtDNA variant that affects codon-anticodon affinity and shows its impact on cellular fitness in immune cells.

The paper cautions against interpreting a yeast study claiming synonymous mutations are as disease-causing as nonsynonymous ones, given existing evidence for their predominant neutrality in humans.

The paper identifies rare protein-coding variants influencing plasma protein levels in 50,829 UK Biobank participants using exome-wide association studies.

The paper introduces OncMTR, a metric identifying genic regions intolerant to germline variation but enriched for cancer-driving mutations, and shows it improves genetic signal detection for hematologic malignancies.

The paper genotypes and sequences 140,000 adults from the Mexico City Prospective Study, revealing ancestry diversity and developing imputation resources for genetic studies.

The paper assesses the contribution of rare-to-common protein-coding variants to metabolic biomarker levels using UK Biobank exome sequences and identifies novel gene-biomarker relationships.

The paper identifies MAP3K15 as a protective gene for diabetes through genetic analysis and shows its inhibition could be a therapeutic strategy.

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

The paper describes exome sequencing of 200,643 UK Biobank participants, providing a rich resource of coding variants for genetic and drug discovery research.

This study uses exome sequencing of 177,882 UK Biobank participants to assess the role of rare variants in 10,533 phenotypes, identifying 911 significant gene-phenotype relationships.