Priit Palta

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

The paper identifies genetic variants associated with diurnal glucose levels and their role in type 2 diabetes risk.

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.

This study shows that circadian misalignment contributes to myopia across species, with reversible effects in mice and associations in human populations.

The paper identifies widespread 24-hour gene expression rhythms in human tissues using local phase inference, revealing previously underestimated rhythmic transcription in the brain and associations with neurodegenerative diseases.

This paper improves type 2 diabetes polygenic risk scores by including rare and population-specific variants, showing better risk prediction in diverse populations.

The paper uses Estonian Biobank data to identify genetic loci associated with 5,491 disease phenotypes, finding 3,222 genome-wide significant loci and 754 protein-altering variant-trait associations.

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

The paper identifies a regulatory variant in IRF6 associated with increased cleft palate risk in Finland and shows it disrupts IRF6 enhancer function.

This study identifies 8 novel genetic risk loci for psoriasis and finds genetic correlations with socio-economic status and affective symptoms.

This study identifies therapeutic targets by integrating GWAS with multi-omics data, finding enriched causal genes and novel associations like IL6ST in polymyalgia rheumatica.

The paper develops a targeted gene expression assay to assess endometrial receptivity, finding higher rates of shifted window of implantation in recurrent implantation failure patients.

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

This study evaluates five NIPT aneuploidy detection tools using clinically validated samples, finding that lower sequencing coverage increases false-negative and false-positive rates.

The paper performs a GWAS meta-analysis of cervical cancer and links it to reproductive tract development, immune response, and cellular proliferation/apoptosis, while also identifying genetic risk factors for other cervical phenotypes.

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

The paper maps high-resolution recombination rates in Finns and compares their impact on phasing and imputation to non-Finnish Europeans, finding minimal effect on accuracy.

This study identifies five genetic loci associated with obstructive sleep apnoea and finds a causal link between BMI and OSA through polygenic risk scores and Mendelian randomization.

This study identifies 15 new risk loci for otosclerosis and replicates known associations, highlighting shared genetic links with skeletal structure and bone-related disorders.

The paper evaluates polygenic risk scores and clinical risk factors for predicting early-onset cardiometabolic diseases and cancers, showing comparable performance to clinical scores.

This paper introduces a computational framework for targeted high-coverage sequencing-based NIPT, achieving high accuracy in detecting fetal trisomies and parental origin.

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.

TAC-seq is a targeted sequencing method using UMIs to count biomarker molecules, showing improved accuracy in mRNA, microRNA, and cell-free DNA analysis compared to standard sequencing.

The paper validates a whole-genome sequencing-based NIPT method and software for detecting fetal aneuploidies in Estonia, showing high accuracy for common trisomies but some false positives and detection issues with low fetal fraction.

Genetic correlations across 25 brain disorders (215,683 cases) reveal broad psychiatric common-variant sharing, largely distinct neurological disorders, and migraine as the only significant cross-category link.

This study shows common genetic variants significantly contribute to migraine family clustering, with higher burden in familial cases compared to population-based cases.