Daniel Fannar Gudbjartsson

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.

This study identifies six genome-wide significant risk loci for tic disorders and links genetic risk to specific brain cell types and circuits.

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 paper identifies genetic variants associated with amiodarone-induced thyroid dysfunction and shows they improve risk prediction beyond general thyroid disease PRS.

The paper develops a convolutional neural network to automate CNV validation, achieving high accuracy comparable to human visual inspection.

This study identifies 118 new genetic loci associated with Alzheimer's disease across diverse ancestries and discovers 48 novel risk loci, including those enriched in neuronal cell types.

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 genetic signals associated with age at menarche, highlights genes involved in pubertal development, and links reproductive timing to later life disease risk.

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 identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

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 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 paper uses deep learning to predict brain age from MRI scans and identifies genetic variants associated with the predicted age difference.

The paper reanalyzes UK Biobank data and two population samples to show CCR5-del32 homozygosity is not associated with increased mortality or disease risk.

This study conducts a large GWAS on heart failure, identifying 12 genetic loci with associations to CAD, atrial fibrillation, and reduced left ventricular function, and provides causal evidence for several risk factors.

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

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.