Search Results - "Moore, Kristjan H. S"
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Evaluation of Large-Scale Proteomics for Prediction of Cardiovascular Events
Published in JAMA : the journal of the American Medical Association (22-08-2023)“…IMPORTANCE: Whether protein risk scores derived from a single plasma sample could be useful for risk assessment for atherosclerotic cardiovascular disease…”
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The genetic structure of Norway
Published in European journal of human genetics : EJHG (01-11-2021)“…The aim of the present study was to describe the genetic structure of the Norwegian population using genotypes from 6369 unrelated individuals with detailed…”
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HaploGrouper: a generalized approach to haplogroup classification
Published in Bioinformatics (01-05-2021)“…Abstract Motivation We introduce HaploGrouper, a versatile software to classify haplotypes into haplogroups on the basis of a known phylogenetic tree. A…”
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The rate and nature of mitochondrial DNA mutations in human pedigrees
Published in Cell (25-07-2024)“…We examined the rate and nature of mitochondrial DNA (mtDNA) mutations in humans using sequence data from 64,806 contemporary Icelanders from 2,548 matrilines…”
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Ancient genomes from Iceland reveal the making of a human population
Published in Science (American Association for the Advancement of Science) (01-06-2018)“…Opportunities to directly study the founding of a human population and its subsequent evolutionary history are rare. Using genome sequence data from 27 ancient…”
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Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency
Published in Nature genetics (01-09-2024)“…Age at menopause (AOM) has a substantial impact on fertility and disease risk. While many loci with variants that associate with AOM have been identified…”
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Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease
Published in Nature communications (09-07-2024)“…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…”
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Author Correction: The Anglo-Saxon migration and the formation of the early English gene pool
Published in Nature (London) (03-11-2022)Get full text
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The sequences of 150,119 genomes in the UK Biobank
Published in Nature (London) (28-07-2022)“…Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization…”
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The Anglo-Saxon migration and the formation of the early English gene pool
Published in Nature (London) (06-10-2022)“…The history of the British Isles and Ireland is characterized by multiple periods of major cultural change, including the influential transformation after the…”
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Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
Published in Nature genetics (01-11-2023)“…Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies…”
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Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
Published in Nature communications (10-06-2023)“…Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes…”
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Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
Published in Nature communications (03-07-2023)Get full text
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14
Actionable Genotypes and Their Association with Life Span in Iceland
Published in The New England journal of medicine (09-11-2023)“…This study examines the relationship of pathogenic and likely pathogenic variants for which preventive or therapeutic measures are available to life span and…”
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