Reedik Mägi

The paper introduces methylSCOPA and META-methylSCOPA software for multi-phenotype epigenome-wide association studies, identifying significant methylation sites associated with fasting glucose and insulin levels.

This study compares the effectiveness of ethnically matched and mixed reference panels for imputing rare variants in GWAS, showing improved detection of rare variant associations with matched panels.

This study identifies genetic variants associated with sporadic and recurrent miscarriage through large-scale association analyses and Mendelian randomization.

The paper identifies 49 novel blood lipid loci associated with gene-sleep interactions in 126,926 individuals across 5 ancestry groups, with gene-short-sleep interactions explaining 4.25% of triglyceride variance.

This study finds that genetically or therapeutically lowering sclerostin increases cardiovascular risk, based on genetic variant analysis and clinical trial data.

The paper uses GWIS to analyze genetic correlations between HOMA-B/-IR and inflammatory markers, identifying novel loci and strong genetic links with PAI-1 and C-reactive protein.

A GWAS of erectile dysfunction identifies a new locus at 6q16.3, implicating hypothalamic neurobiology and diabetes in its etiology.

This study performs a large-scale genome-wide meta-analysis of PCOS cases and identifies genetic loci associated with PCOS and related traits, showing shared genetic architecture across different diagnostic criteria.

This paper compares genetic risk scores for breast cancer, finding that a combined metaGRS2 provides the strongest predictive ability in two cohorts.

The paper investigates how cellular composition affects endometrial gene expression profiles and shows that adjusting for cell proportions changes differential expression results.

This study performs a GWAS meta-analysis of menstrual cycle length in European women, confirming the FSHB locus association and identifying four novel signals linked to the HPG axis.

This study fine-maps type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps, identifying 73 variants with >80% posterior probability of association.

This study identifies 4 new risk loci for cannabis use through GWAS, finds genetic overlap with mental health, and shows a causal link between schizophrenia and cannabis use.

The paper identifies CSMD1 variants linked to gonadal function in both sexes and shows that Csmd1 knockout mice have reproductive defects, implicating the complement system in postnatal development.