Unnur Þorsteinsdóttir

This study identifies 26 risk loci for fibromyalgia through a genome-wide association analysis of 2.5 million individuals, revealing genetic links to neural functions and chronic pain disorders.

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

This study evaluates polygenic risk scores (PRS) for colorectal cancer (CRC) screening, showing they stratify risk independently of ancestry and sex but offer limited additional predictive value when combined with FIT.

The paper uses population-scale Ig genetics to identify genetic associations and map their effects on the human B-cell system, revealing new genes and regulatory mechanisms in humoral immunity.

BloodVariome identifies 259 genetic associations across 127 immune cell populations in 11,983 individuals, revealing fine-grained genetic compartmentalization of the immune system.

This study identifies 80 genetic loci and 61 effector genes associated with dilated cardiomyopathy through GWAS and integrates transcriptomic data to uncover biological pathways and cellular states involved in the disease.

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

The paper identifies five genetic loci associated with postpartum hemorrhage through a meta-analysis and links them to progesterone receptor binding sites and related traits.

The paper introduces a deep learning framework for polygenic risk score prediction, showing improved performance over traditional methods for various diseases.

This study identifies genetic loci associated with gestational duration and preterm delivery, showing maternal and fetal genetic effects and antagonistic pleiotropy with birth weight.

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.

The paper analyzes whole genome sequences of 150,119 UK Biobank individuals, identifying variants and associations with traits, and provides a haplotype reference panel for imputation.

This study identifies 144 genetic loci associated with abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target through Mendelian Randomization and pre-clinical validation.

The paper was withdrawn due to premature posting and is not intended to be cited for the UK Biobank Pharma Proteomics Project.

A genome-wide association study identifies DNA variants influencing HSPC levels in human blood, with PPM1H as a novel regulator affecting stem cell subpopulations.

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.

The paper uses long-read sequencing on 3,622 Icelanders to identify structural variants and their associations with diseases and traits.

This study performs a GWAS on random glucose measurements in 493,036 individuals, identifying 128 loci associated with glycaemic traits and providing insights into diabetes biology and treatment.

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

The paper identifies genetic determinants of mosaic Y chromosome loss in blood and links it to genomic instability and non-haematological cancer risk.

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.

The paper identifies recurrent de novo mutations in sibling pairs and estimates their recurrence probabilities based on various factors.

This study identifies 13 novel genetic loci associated with endometriosis through a large GWAS meta-analysis and finds genetic links to other pain-related conditions.

This study introduces RDR, a method to estimate heritability while removing environmental bias, and applies it to 54,888 Icelanders to estimate heritability for 14 traits.

This study identifies 111 genetic loci and 163 risk variants associated with atrial fibrillation using a GWAS of over 1 million individuals.

This study identifies 9 new osteoarthritis loci using UK Biobank data and finds causal effects of higher body mass index on osteoarthritis.