Georgi Hudjashov

Detecting CYP2C19 deletions from genotyping array signals using neural networks

This paper develops a neural network model, nnCNV, to detect CYP2C19 deletions from genotyping array signals, achieving higher accuracy than existing methods.

ADVANCING GENOTYPE IMPUTATION IN ANCIENT GENOMES USING A REGION-SPECIFIC REFERENCE PANEL AND BENCHMARK GENOTYPES

This paper improves genotype imputation for ancient genomes using a region-specific reference panel and benchmark genotypes, showing enhanced accuracy and revealing genetic differentiation linked to cultural differences.

Pharmacogenomic architecture of antihypertensive switching implicates neurotensin-NTSR1 signaling in ACE inhibitor-induced cough

This study identifies genetic loci associated with antihypertensive medication switching, implicating neurotensin-NTSR1 signaling in ACE inhibitor-induced cough and CYP3A4*22 in dCCB intolerance.

Genome-wide association study for circulating metabolic traits in 619,372 individuals

This study performs a large-scale GWAS on 249 metabolic traits in 619,372 individuals, identifying 88,604 associations and using MR to explore causal links between metabolites and diseases.

Genetic effects on migration behaviour contribute to increasing spatial differentiation at trait-associated loci in Estonia

The paper shows that migration behavior in Estonia increases spatial genetic differentiation at trait-associated loci, with educational attainment PGS driving inter-regional differences.

Parent-of-Origin inference and its role in the genetic architecture of complex traits: evidence from ~265,000 individuals

The paper infers parent-of-origin effects in ~265,000 individuals using a novel method, identifying over 30 novel POEs and confirming known associations, supporting the parental conflict hypothesis.

Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum

This study identifies 21 infertility loci and over 400 reproductive hormone loci through GWAS across multiple cohorts, finding limited genetic correlation between reproductive hormones and infertility.

StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data

StarPhase diplotypes 21 pharmacogenes using long-read sequencing with high accuracy, updating 26.2% of existing diplotypes and highlighting gaps in pharmacogenomic databases.

From Biobanking to Personalized Medicine: the journey of the Estonian Biobank

The paper reviews the Estonian Biobank's role in advancing genomics research and personalized medicine through its comprehensive data and translational focus.

Uncovering the Shared Genetic Components of Thyroid Disorders and Reproductive Health

This study identifies shared genetic components between thyroid disorders and reproductive health using GWAS and genetic correlation analysis in 743,088 individuals.

The genetic architecture of changes in adiposity during adulthood

This study identifies six novel genetic loci associated with BMI change over adulthood using UK Biobank health records, finding lower heritability for BMI change compared to baseline BMI.

Genetic determinants of plasma protein levels in the Estonian population

This study identifies genetic determinants of plasma protein levels in the Estonian population, including common, rare, and copy number variants, and provides fine-mapped credible sets for 151 proteins.

Evaluation of polygenic scoring methods in five biobanks reveals greater variability between biobanks than between methods and highlights benefits of ensemble learning

This study evaluates polygenic scoring methods across five biobanks and finds that biobank differences outweigh method differences, with ensemble learning improving performance.

Mapping pQTLs of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and novel therapeutic targets

The paper identifies pQTLs for 91 plasma proteins, finds novel associations, and uses MR to uncover causal roles in immune-mediated diseases, suggesting new therapeutic targets.

Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

HLA allele-calling using whole-exome sequencing identifies 129 novel associations in 11 autoimmune diseases: a multi-ancestry analysis in the UK Biobank

This study uses whole-exome sequencing to directly call HLA alleles in the UK Biobank, identifying 129 novel associations between HLA alleles and 11 autoimmune diseases.

Advancing our understanding of genetic risk factors and potential personalized strategies in pelvic organ prolapse: largest GWAS to date reveals 19 novel associated loci

This paper identifies 19 novel genetic loci associated with pelvic organ prolapse through the largest GWAS to date and presents a polygenic risk score with predictive value for POP risk.

Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with local ancestry and archaic introgression

The paper identifies Indonesia-specific eQTLs and methylQTLs linked to local ancestry and archaic introgression, showing their impact on gene regulation and hematological traits.

Genome-wide DNA methylation and gene expression patterns reflect genetic ancestry and environmental differences across the Indonesian archipelago

The paper analyzes DNA methylation and gene expression in Indonesian populations to show genetic ancestry, environmental influences, and immune-related differences across regions.