Priit Palta
A5066237538- Genetic Associations and Epidemiology
- Migraine and Headache Studies
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Bioinformatics and Genomic Networks
- Prenatal Screening and Diagnostics
- Neuroscience of respiration and sleep
- Epigenetics and DNA Methylation
- Fetal and Pediatric Neurological Disorders
- Molecular Biology Techniques and Applications
- Endometriosis Research and Treatment
- Reproductive System and Pregnancy
- Dementia and Cognitive Impairment Research
- Cancer-related molecular mechanisms research
- Genetic Mapping and Diversity in Plants and Animals
- Cancer, Lipids, and Metabolism
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Lipoproteins and Cardiovascular Health
- BRCA gene mutations in cancer
- RNA Research and Splicing
- Cardiovascular Health and Risk Factors
- Ocular Diseases and Behçet’s Syndrome
- Nutrition, Genetics, and Disease
- RNA and protein synthesis mechanisms
University of Tartu
2016-2025
Institute for Molecular Medicine Finland
2016-2025
University of Helsinki
2016-2025
Competence Centre on Health Technologies (Estonia)
2021-2022
Finland University
2014-2022
VA Palo Alto Health Care System
2020
John Wiley & Sons (United Kingdom)
2019
Hudson Institute
2019
Parkwood Institute
2016
Lawson Health Research Institute
2016
Abstract Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These survived the founding bottleneck rather than being distributed over large ultrarare variants. Although this effect is well established Mendelian genetics, its value common disease genetics less explored 1,2 . FinnGen aims to study genome and national health register data...
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified genetic sharing 25 disorders from genome-wide association studies 265,218 patients 784,643 control participants assessed relationship to 17 phenotypes 1,191,588 individuals. Psychiatric common variant risk, whereas neurological appear more distinct one another psychiatric disorders. also identified significant between a number...
Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk presence numbers neutral variants, even phenotypically relevant genes. Isolated populations with recent bottlenecks offer advantages for studying rare as they have deleterious that present at higher frequencies well a substantial reduction variation. To explore potential Finnish founder population low-frequency (0.5–5%)...
ABSTRACT Population isolates such as Finland provide benefits in genetic studies because the allelic spectrum of damaging alleles any gene is often concentrated on a small number low-frequency variants (0.1% ≤ minor allele frequency < 5%), which survived founding bottleneck, opposed to being distributed over much larger ultra--rare variants. While this advantage well-- established Mendelian genetics, its value common disease genetics has been less explored. FinnGen aims study genome and...
Genetic imputation is a cost-efficient way to improve the power and resolution of genome-wide association (GWA) studies. Current publicly accessible reference panels accurately predict genotypes for common variants with minor allele frequency (MAF)≥5% low-frequency (0.5≤MAF<5%) across diverse populations, but rare variation (MAF<0.5%) still rather limited. In current study, we evaluate accuracy achieved from populations population-specific high-coverage (30 ×) whole-genome sequencing (WGS)...
Abstract Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses 141 species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10 −8 ), 10 which associate risk including five new loci- COL5A1 , GLTPD2 SPTLC3 MBOAT7 GALNT16 (false...
There is currently limited understanding of the genetic aetiology obstructive sleep apnoea (OSA). We aimed to identify loci associated with OSA risk, and test if its comorbidities share a common background. conducted first large-scale genome-wide association study using FinnGen (217 955 individuals) 16 761 patients identified nationwide health registries. estimated 0.08 (95% CI 0.06–0.11) heritability five (p<5.0×10 −8 ): rs4837016 near GAPVD1 (GTPase activating protein VPS9 domains 1),...
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However, few studies thoroughly investigated their best practices global populations across different diseases. We here utilized data from Global Biobank Meta-analysis Initiative (GBMI) to explore methodological considerations and PRS performance 9 biobanks for 14 disease endpoints. Specifically, we constructed PRSs using pruning thresholding (P + T) PRS-continuous shrinkage (CS). For both methods, a European-based...
Gestational diabetes mellitus (GDM) is a common metabolic disorder affecting more than 16 million pregnancies annually worldwide
Abstract Polygenic risk scores (PRS) for breast cancer have potential to improve prediction, but there is limited information on their utility in various clinical situations. Here we show that among 122,978 women the FinnGen study with 8401 cases, PRS modifies of two high-impact frameshift variants. Similarly, after diagnosis, individuals elevated an developing contralateral cancer, and can considerably assessment female first-degree relatives. In more detail, c.1592delT variant PALB2...
Hyperlipidemia is a highly heritable risk factor for coronary artery disease (CAD). While monogenic familial hypercholesterolemia associates with severely increased CAD risk, it remains less clear to what extent high polygenic load of large number LDL (low-density lipoprotein) cholesterol (LDL-C) or triglyceride (TG)-increasing variants risk. We derived scores (PRSs) ≈6M separately LDL-C and TG weights from UK Biobank-based genome-wide association study ≈324K samples. evaluated the impact...
The causal association between the gut microbiome and development of migraine its subtypes remains unclear.The single nucleotide polymorphisms concerning were retrieved from gene-wide study (GWAS) MiBioGen consortium. summary statistics datasets migraine, with aura (MA), without (MO) obtained GWAS meta-analysis International Headache Genetics Consortium (IHGC) FinnGen Inverse variance weighting (IVW) was used as primary method, complemented by sensitivity analyses for pleiotropy increasing...
DNA methylation is one of the most studied epigenetic marks in human genome, with result that desire to map methylome has driven development several methods on a genomic scale. Our study presents first comparison two these techniques - targeted approach Infinium HumanMethylation450 BeadChip® immunoprecipitation and sequencing-based method, MeDIP-seq. Both were initially validated respect bisulfite sequencing as gold standard then assessed terms coverage, resolution accuracy. The regions can...
Abstract The genetic features of isolated populations can boost power in complex-trait association studies, and an in-depth understanding how their variation has been shaped by demographic history help leverage these advantageous characteristics. Here, we perform a comprehensive investigation using 3,059 newly generated low-depth whole-genome sequences from eight European isolates two matched general populations, together with published data the 1000 Genomes Project UK10K. Sequencing give...
Isolated populations with enrichment of variants due to recent population bottlenecks provide a powerful resource for identifying disease-associated genetic and genes. As model an isolate population, we sequenced the genomes 1463 Finnish individuals as part Sequencing Initiative Suomi (SISu) Project. We compared genomic profiles Finns sample British that were in parallel UK10K Whereas there no major differences allele frequency common variants, significant depletion rare spectrum was...