Ingileif Jónsdóttir

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

This study shows endometriosis lesions originate from the normal endometrium through clonal expansion, with distinct clones at different body sites.

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

This study identifies 21 infertility loci and over 400 reproductive hormone loci through GWAS across multiple cohorts, finding limited genetic correlation between reproductive hormones and infertility.

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.

The paper was withdrawn due to premature posting and is not intended to be cited for the UK Biobank Pharma Proteomics Project.

This study identifies eight novel genetic signals associated with asthma-COPD overlap through a genome-wide association analysis involving multiple cohorts.

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

The paper identifies a rare missense mutation in MYH6 associated with increased risk of coarctation of the aorta and other cardiac conditions.

This study identifies two new genetic loci associated with aortic valve stenosis through a large genome-wide association study.

This study identifies mutations in RPL3L and MYZAP as risk factors for atrial fibrillation through genome-wide association analysis and functional validation.

Graphtyper efficiently genotypes sequence variants in large populations using pangenome graphs, achieving high accuracy and scalability.

The paper identifies a protein truncating variant in RNF186 that protects against ulcerative colitis by reducing disease risk.