Mykyta Artomov

Clinical history shapes the predictive value of polygenic risk

The paper develops and validates polygenic risk scores (PRS) for 150 diseases and mortality using UK Biobank and FinnGen data, showing genetic information provides the largest predictive gains for certain diseases but not others.

Quantifying the contribution of genetic variation to healthcare expenditure across diverse healthcare systems

This study identifies genetic variants associated with healthcare costs across multiple systems, finding polygenic influences and large effects from specific loss-of-function variants.

PGS Browser: a public platform for personalized polygenic score interpretation

The paper benchmarks polygenic scores in a large cohort, identifies top-performing models, and provides a public platform for PGS analysis and interpretation.

CR1 variants contribute to FSGS susceptibility across multiple populations.

The paper identifies CR1 variants as a risk factor for FSGS across diverse populations through a case-control study and variant analysis.

SNPred outperforms other ensemble-based SNV pathogenicity predictors and elucidates the challenges of using ClinVar for evaluation of variant classification quality.

Discordant calls across genotype discovery approaches elucidate variants with systematic errors

The paper identifies discordant genotype calls across sequencing methods in gnomAD, provides a blacklist of problematic variants, and introduces a classifier to detect such variants in other datasets.

Understanding Complex Trait Susceptibilities and Ethnical Diversity in a Sample of 4,145 Russians Through Analysis of Clinical and Genetic Data

The paper analyzes genetic and phenotypic data from 4,145 Russians to explore ethnic diversity and genetic associations, finding enrichment of Finnish-specific variants and providing a GWAS database.

GCDPipe: risk gene, cell type, and drug ranking for complex traits

GCDPipe ranks risk genes, cell types, and drugs for complex traits using GWAS and expression data, showing effectiveness in disease applications.

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

This study investigates how the 22q11.2 deletion affects gene expression in neural progenitor cells and neurons, linking it to schizophrenia risk through altered presynaptic gene products.

Prioritization of disease genes from GWAS using ensemble based positive-unlabeled learning

This paper introduces GPrior, a gene prioritization tool that improves disease gene identification from GWAS by using ensemble positive-unlabeled learning.

Genetic variant in SPDL1 reveals novel mechanism linking pulmonary fibrosis risk and cancer protection

The paper identifies a genetic variant in SPDL1 that links pulmonary fibrosis risk and cancer protection through antagonistic pleiotropy.

Epigenetic aging of classical monocytes from healthy individuals

This study characterizes epigenetic aging in human classical monocytes, identifying age-associated DNA methylation changes and their links to gene expression and disease associations.

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

The paper analyzes genetic variants in 6,994 individuals with neurodevelopmental disorder with epilepsy to assess diagnostic yield and identify ultra-rare variants in associated genes.

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

The paper analyzes rare germline variation in cancer predisposing genes across cancer patients and controls to identify shared mutation properties and candidate susceptibility genes.

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

A platform for case-control matching enables association studies without genotype sharing

The paper develops a method to match control samples to case cohorts for genetic association studies without sharing genotypes, using singular value decomposition and provides an online library of controls.

Haplotype sharing provides insights into fine-scale population history and disease in Finland

This study uses haplotype sharing among Finns to reconstruct recent population history and identify regions with increased rare disease variant sharing.

Mosaic Mutations in Blood DNA Sequence Are Associated with Solid Tumor Cancers

The paper shows mosaic protein-truncating variants in blood DNA are associated with solid-tumor cancers, but not present in tumor DNA.