Kristjan H. S. Moore
A5084730049- Genetic Associations and Epidemiology
- Forensic and Genetic Research
- Genetic diversity and population structure
- Digestive system and related health
- Genetic and phenotypic traits in livestock
- Genomic variations and chromosomal abnormalities
- Archaeology and ancient environmental studies
- Nutrition, Genetics, and Disease
- Genomics and Rare Diseases
- Vestibular and auditory disorders
- Genetics and Neurodevelopmental Disorders
- Inflammation biomarkers and pathways
- Yersinia bacterium, plague, ectoparasites research
- Neuroinflammation and Neurodegeneration Mechanisms
- Mitochondrial Function and Pathology
- Immune Cell Function and Interaction
- Systemic Lupus Erythematosus Research
- Thyroid Disorders and Treatments
- Herpesvirus Infections and Treatments
- Forensic Anthropology and Bioarchaeology Studies
- Lymphoma Diagnosis and Treatment
- Diabetes and associated disorders
- Neuroscience of respiration and sleep
- Genomics and Phylogenetic Studies
- Rangeland Management and Livestock Ecology
deCODE Genetics (Iceland)
2018-2025
Amgen (Germany)
2023
University of Iceland
2023
Detailed knowledge of how diversity in the sequence human genome affects phenotypic depends on a comprehensive and reliable characterization both sequences variation. Over past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome large cohorts with rich data1,2. Here we describe analysis 150,119 individuals UK Biobank3. This constitutes set high-quality variants, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% all...
Abstract The history of the British Isles and Ireland is characterized by multiple periods major cultural change, including influential transformation after end Roman rule, which precipitated shifts in language, settlement patterns material culture 1 . extent to migration from continental Europe mediated these transitions a matter long-standing debate 2–4 Here we study genome-wide ancient DNA 460 medieval northwestern Europeans—including 278 individuals England—alongside archaeological data,...
Founder effects in modern populations The genomes of ancient humans can reveal patterns early human migration (see the Perspective by Achilli et al. ). Iceland has a genetically distinct population, despite relatively recent settlement (∼1100 years ago). Ebenesersdóttir examined Icelandic people, dating to near colonization Iceland, and compared them with modernday populations. DNA revealed that founders had Gaelic Norse origins. Genetic drift since initial left Icelanders allele frequencies...
Objectives To find causal genes for rheumatoid arthritis (RA) and its seropositive (RF and/or ACPA positive) seronegative subsets. Methods We performed a genome-wide association study (GWAS) of 31 313 RA cases (68% seropositive) ~1 million controls from Northwestern Europe. searched outside the HLA-locus through effect on coding, mRNA expression in several tissues levels plasma proteins (SomaScan) did network analysis (Qiagen). Results found 25 sequence variants overall, 33 2 RA, altogether...
Importance Whether protein risk scores derived from a single plasma sample could be useful for assessment atherosclerotic cardiovascular disease (ASCVD), in conjunction with clinical factors and polygenic scores, is uncertain. Objective To develop ASCVD prediction compare them to primary secondary event populations. Design, Setting, Participants The analysis was retrospective study of events among 13 540 individuals Iceland (aged 40-75 years) proteomics data no history major at recruitment...
In 2021, the American College of Medical Genetics and Genomics (ACMG) recommended reporting actionable genotypes in 73 genes associated with diseases for which preventive or therapeutic measures are available. Evaluations association these life span currently lacking. We assessed prevalence coding splice variants on ACMG Secondary Findings, version 3.0 (ACMG SF v3.0), list genomes 57,933 Icelanders. assigned pathogenicity to all reviewed using reported evidence ClinVar database, frequency...
Abstract Migraine is a complex neurovascular disease with range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, aura (MA) without (MO). We identified four new MA-associated variants (in PRRT2 , PALMD ABO LRRK2 ) classified 13 MO-associated variants. Rare effects highlight three genes. A rare frameshift variant brain-expressed confers...
We investigate a 2,000-year genetic transect through Scandinavia spanning the Iron Age to present, based on 48 new and 249 published ancient genomes genotypes from 16,638 modern individuals. find regional variation in timing magnitude of gene flow three sources: eastern Baltic, British-Irish Isles, southern Europe. ancestry was widespread Viking period, whereas Baltic is more localized Gotland central Sweden. In some regions, drop current levels external suggests that immigrants contributed...
We introduce HaploGrouper, a versatile software to classify haplotypes into haplogroups on the basis of known phylogenetic tree. A typical use case for this is assignment human mitochondrial DNA (mtDNA) or Y-chromosome haplotypes. Existing state-of-the-art haplogroup-calling typically hard-wired work only with either mtDNA from humans.HaploGrouper exhibits comparable accuracy in these instances and has advantage being able assign any kind species-given an extant annotated tree defined by...
Human populations have been shaped by catastrophes that may left long-lasting signatures in their genomes. One notable example is the second plague pandemic entered Europe ca. 1,347 CE and repeatedly returned for over 300 years, with typical village town mortality estimated at 10%–40%.1Slack P. The Impact of Plague Tudor Stuart England. Routledge & K. Paul, 1985Google Scholar It assumed this high affected gene pools these populations. First, local population crashes reduced genetic...
Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit homozygosity 1.52 million from six European populations. In this study, identified 25 genes harboring protein-altering a strong (10% or less predicted homozygotes). Sequence in 12 the cause Mendelian disease under mode inheritance, two dominant mode, but remaining 11 have...
Abstract The aim of the present study was to describe genetic structure Norwegian population using genotypes from 6369 unrelated individuals with detailed information about places residence. Using standard single marker- and haplotype-based approaches, we report evidence two regions distinctive patterns variation, one in far northeast, another south Norway, as indicated by fixation indices, haplotype sharing, homozygosity, effective size. We detect quantify a component Uralic Sami ancestry...
Age at menopause (AOM) has a substantial impact on fertility and disease risk. While many loci with variants that associate AOM have been identified through genome-wide association studies (GWAS) under an additive model, other genetic models are rarely considered
Abstract We describe the analysis of whole genome sequences (WGS) 150,119 individuals from UK biobank (UKB). This constitutes a set high quality variants, including 585,040,410 SNPs, representing 7.0% all possible human and 58,707,036 indels. The large variants allows us to characterize selection based on sequence variation within population through Depletion Rank (DR) score for windows along genome. DR shows that coding exons represent small fraction regions in subject strong conservation....
Abstract Autoimmune thyroid disease (AITD) is a common autoimmune disease. In 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, 115 previously unreported. Multiomics analysis yields 235 candidate genes outside the MHC-region findings highlight importance involved in T-cell regulation. A rare 5’-UTR variant (rs781745126-T, MAF = 0.13% Iceland) LAG3 has largest effect (OR 3.42, P 2.2 × 10 −16 ) generates...
Abstract The aim of the present study was to describe genetic structure Norwegian population using genotypes from 6369 unrelated individuals with detailed information about places residence. Using standard single marker- and haplotype-based approaches, we report evidence two regions distinctive patterns variation, one in far northeast, another south Norway, as indicated by fixation indices, haplotype sharing, homozygosity effective size. We detect quantify a component Uralic Sami ancestry...