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Showing 1–17 of 17 results
Advanced filters: Author: Pall I. Olason Clear advanced filters

  • Around 1 in 136 pregnancies is lost due to a pathogenic small sequence variant genotype in the fetus.

    • Gudny A. Arnadottir
    • Hakon Jonsson
    • Kari Stefansson
    ResearchOpen Access
    Nature
    Volume: 642, P: 672-681

  • Understanding the underlying pathophysiology of obesity can help prevent this condition. Here, the authors perform a GWAS of BMI in diverse ancestries, finding four missense variants in FRS3 that affect BMI.

    • Andrea B. Jonsdottir
    • Gardar Sveinbjornsson
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-16

  • Complete human recombination maps are presented that enable exploration of both cross-over and non-cross-over events during meiosis, with the potential to provide insight into the causes of aneuploidies and pregnancy loss.

    • Gunnar Palsson
    • Marteinn T. Hardarson
    • Kari Stefansson
    ResearchOpen Access
    Nature
    Volume: 639, P: 700-707

  • Comparisons of phenotypic and genetic association with protein levels from Icelandic and UK Biobank cohorts show that using multiple analysis platforms and stratifying populations by ancestry improves the detection of associations and allows the refinement of their ___location within the genome.

    • Grimur Hjorleifsson Eldjarn
    • Egil Ferkingstad
    • Kari Stefansson
    ResearchOpen Access
    Nature
    Volume: 622, P: 348-358

  • To measure selection on variants, whole-genome sequencing of approximately 150,000 individuals from the UK Biobank is used to rank sequence variants by their level of depletion.

    • Bjarni V. Halldorsson
    • Hannes P. Eggertsson
    • Kari Stefansson
    ResearchOpen Access
    Nature
    Volume: 607, P: 732-740

  • Microsatellites are tandem repeats of short DNA motifs and represent some of the most polymorphic sites in the genome. Here, the authors report that the human germline microsatellite mutation rate is, in part, under genetic control.

    • Snaedis Kristmundsdottir
    • Hakon Jonsson
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-12

  • The effect of sequence variants on phenotypes may depend on parental origin. Here, a method is developed that takes parental origin — the impact of which, to date, has largely been ignored — into account in genome-wide association studies. For 38,167 Icelanders genotyped, the parental origin of most alleles is determined; furthermore, a number of variants are found that show associations specific to parental origin, including three with type 2 diabetes.

    • Augustine Kong
    • Valgerdur Steinthorsdottir
    • Kari Stefansson
    Research
    Nature
    Volume: 462, P: 868-874

  • Whole-genome resequencing of 97 wolves from a highly inbred population reveals complete homozygosity of entire chromosomes in many individuals and characterizes the genomic consequences of intensive inbreeding.

    • Marty Kardos
    • Mikael Åkesson
    • Hans Ellegren
    Research
    Nature Ecology & Evolution
    Volume: 2, P: 124-131

  • Augustine Kong and colleagues describe an approach for phasing SNPs into long haplotypes spanning multiple blocks of linkage disequilibrium. The method, termed long-range phasing, can be also used to impute long haplotypes for ungenotyped individuals.

    • Augustine Kong
    • Gisli Masson
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 40, P: 1068-1075

  • Here, in the first of three papers on the genetics of schizophrenia, a genome-wide association study of single nucleotide polymorphisms using data from several large genome-wide scans reveals significant associations to individual loci that implicate perturbations in immunity, brain development, memory and cognition in the predisposition to schizophrenia.

    • Hreinn Stefansson
    • Roel A. Ophoff
    • David A. Collier
    Research
    Nature
    Volume: 460, P: 744-747

  • The results of sequencing the collared flycatcher genome, and re-sequencing population samples from this species and its sister species, the pied flycatcher, reveal the existence of areas of high sequence divergence compared to background levels, and suggest that complex repeat structures may drive species divergence and that sex chromosomes and autosomes are at different stages of speciation.

    • Hans Ellegren
    • Linnéa Smeds
    • Jochen B. W. Wolf
    ResearchOpen Access
    Nature
    Volume: 491, P: 756-760