Hreinn Stefánsson

The genetic architecture of fibromyalgia across 2.5 million individuals

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.

Combining genome-wide polygenic scores with registry data for colorectal cancer risk-based screening

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.

CNValidatron: Accurate And Efficient Validation of PennCNV Calls Using Computer Vision

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

Predicting Drug Response with Multi-Task Gradient-Boosted Trees in Epilepsy

This paper predicts drug response in epilepsy using multi-task gradient-boosted trees, identifying key genomic and clinical features that influence treatment outcomes.

Distinct metabolic signatures of Alzheimer's and Parkinson's disease revealed through genetic overlap with metabolic markers

This study identifies distinct genetic overlaps between Alzheimer's and Parkinson's disease and metabolic markers, revealing disease-specific pathways involving lipid metabolism and synaptic processes.

Robust inference and widespread genetic correlates from a large-scale genetic association study of human personality

This study identifies 1,257 genetic variants associated with human personality traits using large-scale GWAS and finds widespread genetic correlations with behaviors and life outcomes.

The Landscape of Shared and Divergent Genetic Influences across 14 Psychiatric Disorders

The paper identifies five genomic factors explaining most genetic variance across 14 psychiatric disorders and finds shared and disorder-specific genetic signals with distinct biological functions.

Genome-wide meta-analyses of non-response to antidepressants identify novel loci and potential drugs

This study identifies two novel genomic loci associated with antidepressant non-response and suggests potential drugs for further validation.

Disentangling the shared genetics of ADHD, cannabis use disorder and cannabis use and prediction of cannabis use disorder in ADHD

This paper identifies shared genetic risk loci between ADHD, cannabis use disorder, and cannabis use, and predicts cannabis use disorder risk in ADHD using polygenic scores.

Identification of 64 new risk loci for major depression, refinement of the genetic architecture and risk prediction of recurrence and comorbidities

This study identifies 64 new risk loci for major depression, refines its genetic architecture, and shows strong genetic overlap with other psychiatric disorders and educational attainment.

Working memory and reaction time variability mediate the relationship between polygenic risk and ADHD traits in a general population sample

The sequences of 150,119 genomes in the UK biobank

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.

Large-scale comparison of immunoassay- and aptamer-based plasma proteomics through genetics and disease

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

Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

This GWAS identifies 123 migraine risk loci, including subtype-specific variants and novel targets, supporting neurovascular mechanisms in migraine.

Genome-wide Association Study identifies two novel loci for Gilles de la Tourette Syndrome

This study identifies two novel genetic loci associated with Tourette Syndrome through a genome-wide meta-analysis and integrates functional data to implicate specific genes.

Analysis of diffusion tensor imaging data from UK Biobank confirms dosage effect of 15q11.2 copy-number variation on white matter and shows association with cognition

The paper analyzes diffusion tensor imaging data from UK Biobank to show that 15q11.2 copy-number variation affects white matter and is associated with cognitive performance.

Largest GWAS (N=1,126,563) of Alzheimer's Disease Implicates Microglia and Immune Cells

This study identifies seven novel genetic loci for Alzheimer's disease using a large GWAS and highlights microglia and immune pathways as key contributors to disease pathology.

Genome-wide association study identifies 48 common genetic variants associated with handedness.

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.

Deep learning based brain age prediction uncovers associated sequence variants

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

Common risk variants identified in autism spectrum disorder

This study identifies five genome-wide significant loci and seven shared with other traits in a large ASD GWAS, highlighting polygenic heterogeneity and the value of large-scale GWAS in ASD.

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

Genome-wide association meta-analysis of 20,183 ADHD cases and 35,191 controls finds 12 significant loci; signal concentrates in conserved regions, constrained genes, and CNS regulatory elements.

Large-scale genome-wide association meta-analysis of endometriosis reveals 13 novel loci and genetically-associated comorbidity with other pain conditions

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.

Genetic meta-analysis identifies 9 novel loci and functional pathways for Alzheimers disease risk

This study identifies 9 novel genetic loci and 215 potential causative genes associated with Alzheimer's disease risk through a large genome-wide association analysis.