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Showing 1–12 of 12 results
Advanced filters: Author: Birte Kehr Clear advanced filters

  • Identifying structural variants (SVs) from whole genome sequence data has been a significant bioinformatic challenge. Here, the authors describe PopDel, which uses a joint SV detection approach to reliably and efficiently identify 500-10,000 bp deletions across large population cohorts.

    • Sebastian Niehus
    • Hákon Jónsson
    • Birte Kehr
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-10

  • Basal cell carcinoma is a common cancer among people of European ancestry, with associated high economic costs to monitor and treat. Here Stacey et al.conduct a genome-wide association study on Icelandic and other European populations, identifying four novel loci associated with cancer susceptibility.

    • Simon N. Stacey
    • Hannes Helgason
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-10

  • Lynch syndrome is characterized by predisposition to colorectal cancer and mutations in genes involved in mismatch repair. Here, the authors use whole genome sequencing and immunohistochemistry of mismatch repair proteins to show a high prevalence of Lynch syndrome in the Icelandic population.

    • Sigurdis Haraldsdottir
    • Thorunn Rafnar
    • Kari Stefansson
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-11

  • Bjarni Halldorsson, Kari Stefansson and colleagues use SNP array and whole-genome sequencing data to estimate the meiotic gene conversion rate (G) in humans. They find that G for SNPs is 7.0 conversions/Mb per generation, is 2.17 greater in mothers than in fathers, and increases with maternal age.

    • Bjarni V Halldorsson
    • Marteinn T Hardarson
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 48, P: 1377-1384

  • Swarm Learning is a decentralized machine learning approach that outperforms classifiers developed at individual sites for COVID-19 and other diseases while preserving confidentiality and privacy.

    • Stefanie Warnat-Herresthal
    • Hartmut Schultze
    • Joachim L. Schultze
    ResearchOpen Access
    Nature
    Volume: 594, P: 265-270

  • Analysis of 1,007 sibling pairs from 251 families identifies 878 de novo mutations shared by siblings at 448 sites. Recurrence probability based on parental somatic mosaicism, sibling sharing, parent of origin, mutation type and genomic position can range from 0.011% to 28.5%.

    • Hákon Jónsson
    • Patrick Sulem
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 50, P: 1674-1680

  • Bjarni Halldorsson, Kari Stefansson and colleagues analyze genomic data from 15,219 Icelanders to identify non-repetitive sequences that are missing from the reference genome. They describe 3,791 breakpoint-resolved sequence variants and find overlap with GWAS markers as well as the presence of a proportion of these variants in the chimpanzee genome.

    • Birte Kehr
    • Anna Helgadottir
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 49, P: 588-593

  • Graphtyper is a fast and scalable method for variant genotyping that aligns short-read sequence data to a pangenome. Graphtyper was able to accurately genotype ∼90 million sequence variants in the whole genomes of ∼28,000 Icelanders, including those in six HLA genes.

    • Hannes P Eggertsson
    • Hakon Jonsson
    • Bjarni V Halldorsson
    Research
    Nature Genetics
    Volume: 49, P: 1654-1660