44 Result(s)
within
Sigurjon A Gudjonsson
-
Article
Open AccessStart codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease
Autoimmune thyroid disease (AITD) is a common autoimmune disease. In a GWAS meta-analysis of 110,945 cases and 1,084,290 controls, 290 sequence variants at 225 loci are associated with AITD. Of these variants,...
-
Article
Open AccessAuthor Correction: Large-scale plasma proteomics comparisons through genetics and disease associations
-
Article
Open AccessGenetics and epidemiology of mutational barcode-defined clonal hematopoiesis
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of 45,510 Icelandic and 130,709 UK B...
-
Article
Open AccessLarge-scale plasma proteomics comparisons through genetics and disease associations
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 perform...
-
Article
Open AccessPublisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
-
Article
Open AccessDeficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence va...
-
Article
Open AccessThe sequences of 150,119 genomes in the UK Biobank
Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over th...
-
Article
Open AccessAuthor Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
-
Article
Open AccessRare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (11...
-
Article
Large-scale integration of the plasma proteome with genetics and disease
The plasma proteome can help bridge the gap between the genome and diseases. Here we describe genome-wide association studies (GWASs) of plasma protein levels measured with 4,907 aptamers in 35,559 Icelanders....
-
Article
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
Long-read sequencing (LRS) promises to improve the characterization of structural variants (SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs per individual (a median of 1...
-
Article
Open AccessGenome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA
Benign prostatic hyperplasia and associated lower urinary tract symptoms (BPH/LUTS) are common conditions affecting the majority of elderly males. Here we report the results of a genome-wide association study ...
-
Article
Insights into imprinting from parent-of-origin phased methylomes and transcriptomes
Imprinting is the preferential expression of one parental allele over the other. It is controlled primarily through differential methylation of cytosine at CpG dinucleotides. Here we combine 285 methylomes and...
-
Article
Open AccessA homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency. Here we describe how deficiency of CY...
-
Article
Open AccessCompound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
Epileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of next-generation sequencing has identified a large number of g...
-
Article
Identification of sequence variants influencing immunoglobulin levels
Ingileif Jonsdottir, Björn Nilsson, Kari Stefansson and colleagues perform a genome-wide association study for immunoglobulin levels in Icelandic and Swedish cohorts. They find 38 new variants associated with ...
-
Article
Open AccessA genome-wide association study yields five novel thyroid cancer risk loci
The great majority of thyroid cancers are of the non-medullary type. Here we report findings from a genome-wide association study of non-medullary thyroid cancer, including in total 3,001 patients and 287,550 ...
-
Article
Open AccessEpigenetic and genetic components of height regulation
Adult height is a highly heritable trait. Here we identified 31.6 million sequence variants by whole-genome sequencing of 8,453 Icelanders and tested them for association with adult height by imputing them int...
-
Article
Weighting sequence variants based on their annotation increases power of whole-genome association studies
Daniel Gudbjartsson, Kari Stefansson and colleagues propose a new weighted Bonferroni approach for determining significance thresholds for human genome-wide association studies (GWAS). They demonstrate that th...
-
Article
Open AccessSequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures
Bone mineral density (BMD) is a measure of osteoporosis and is useful in evaluating the risk of fracture. In a genome-wide association study of BMD among 20,100 Icelanders, with follow-up in 10,091 subjects of...
