Gísli Másson
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View article: Whole-genome sequencing of 490,640 UK Biobank participants
Whole-genome sequencing of 490,640 UK Biobank participants Open
Whole-genome sequencing provides an unbiased and complete view of the human genome and enables the discovery of genetic variation without the technical limitations of other genotyping technologies. Here we report on whole-genome sequencing…
View article: Missense variants in FRS3 affect body mass index in populations of diverse ancestries
Missense variants in FRS3 affect body mass index in populations of diverse ancestries Open
View article: Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder
Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder Open
View article: Complete human recombination maps
Complete human recombination maps Open
View article: Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency
Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency Open
View article: Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease Open
View article: Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations
Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations Open
View article: Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura Open
View article: Large-scale plasma proteomics comparisons through genetics and disease associations
Large-scale plasma proteomics comparisons through genetics and disease associations Open
High-throughput proteomics platforms measuring thousands of proteins in plasma combined with genomic and phenotypic information have the power to bridge the gap between the genome and diseases. Here we performed association studies of Olin…
View article: Evaluation of Large-Scale Proteomics for Prediction of Cardiovascular Events
Evaluation of Large-Scale Proteomics for Prediction of Cardiovascular Events Open
Importance Whether protein risk scores derived from a single plasma sample could be useful for risk assessment for atherosclerotic cardiovascular disease (ASCVD), in conjunction with clinical risk factors and polygenic risk scores, is unce…
View article: Physical and cognitive impact following SARS-CoV-2 infection in a large population-based case-control study
Physical and cognitive impact following SARS-CoV-2 infection in a large population-based case-control study Open
View article: Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality Open
View article: Sequence variants affecting the genome-wide rate of germline microsatellite mutations
Sequence variants affecting the genome-wide rate of germline microsatellite mutations Open
View article: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality Open
View article: HLA alleles, disease severity, and age associate with T-cell responses following infection with SARS-CoV-2
HLA alleles, disease severity, and age associate with T-cell responses following infection with SARS-CoV-2 Open
View article: The sequences of 150,119 genomes in the UK Biobank
The sequences of 150,119 genomes in the UK Biobank Open
View article: Sequence variants affect the genome-wide rate of germline microsatellite mutations
Sequence variants affect the genome-wide rate of germline microsatellite mutations Open
Microsatellites are polymorphic tracts of short tandem repeats (STRs) with one to six base-pair (bp) motifs and are some of the most polymorphic markers in the genome. Using 6,084 Icelandic parent-offspring trios we estimate 63.7 (95% CI: …
View article: Genetic architecture of band neutrophil fraction in Iceland
Genetic architecture of band neutrophil fraction in Iceland Open
View article: Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset
Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset Open
View article: Symptoms, physical measures and cognitive tests after SARS-CoV-2 infection in a large population-based case-control study
Symptoms, physical measures and cognitive tests after SARS-CoV-2 infection in a large population-based case-control study Open
Persistent symptoms are common after SARS-CoV-2 infection but the correlation with objective measures is unclear. We utilized the deCODE Health Study to compare multiple symptoms and physical measures between 1,721 Icelanders with prior SA…
View article: Large-scale comparison of immunoassay- and aptamer-based plasma proteomics through genetics and disease
Large-scale comparison of immunoassay- and aptamer-based plasma proteomics through genetics and disease Open
The authors have withdrawn this manuscript because this paper was posted prematurely in advance of a UK Biobank Pharma Proteomics Project consortium effort. Therefore, the authors do not wish this work to be cited as reference for the proj…
View article: Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies
Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies Open
View article: Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene Open
View article: Cohort profile: Copenhagen Hospital Biobank - Cardiovascular Disease Cohort (CHB-CVDC): Construction of a large-scale genetic cohort to facilitate a better understanding of heart diseases
Cohort profile: Copenhagen Hospital Biobank - Cardiovascular Disease Cohort (CHB-CVDC): Construction of a large-scale genetic cohort to facilitate a better understanding of heart diseases Open
Purpose The aim of Copenhagen Hospital Biobank-Cardiovascular Disease Cohort (CHB-CVDC) is to establish a cohort that can accelerate our understanding of CVD initiation and progression by jointly studying genetics, diagnoses, treatments an…
View article: The sequences of 150,119 genomes in the UK biobank
The sequences of 150,119 genomes in the UK biobank Open
We describe the analysis of whole genome sequences (WGS) of 150,119 individuals from the UK biobank (UKB). This constitutes a set of high quality variants, including 585,040,410 SNPs, representing 7.0% of all possible human SNPs, and 58,70…
View article: Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies
Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies Open
The spread of SARS-CoV-2 is dependent on several factors, both biological and behavioral. The effectiveness of various non-pharmaceutical interventions can largely be attributed to changes in human behavior, but quantifying this effect rem…
View article: Molecular benchmarks of a SARS-CoV-2 epidemic
Molecular benchmarks of a SARS-CoV-2 epidemic Open
View article: A germline variant in the TP53 polyadenylation signal confers cancer susceptibility
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility Open
To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP ch…
View article: Humoral Immune Response to SARS-CoV-2 in Iceland
Humoral Immune Response to SARS-CoV-2 in Iceland Open
Our results indicate that antiviral antibodies against SARS-CoV-2 did not decline within 4 months after diagnosis. We estimate that the risk of death from infection was 0.3% and that 44% of persons infected with SARS-CoV-2 in Iceland were …
View article: Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis Open