Advanced search

Filter By:

Journal Check one or more journals to show results from those journals only.

Choose more journals

Article type Check one or more article types to show results from those article types only.
Subject Check one or more subjects to show results from those subjects only.
Date Choose a date option to show results from those dates only.

Custom date range

Clear all filters
Sort by:
Showing 1–9 of 9 results
Advanced filters: Author: Hákon Jónsson Clear advanced filters

  • A pangenome is a collection of DNA sequences that reveals genetic variation between individuals. Four scientists discuss the generation of a human pangenome, and what insights can be gained from it.

    • Arya Massarat
    • Melissa Gymrek
    • Hákon Jónsson
    News & Views
    Nature
    Volume: 617, P: 256-258

  • Kennewick Man, a 8,500-year-old male human skeleton discovered in Washington state, USA, has been the subject of scientific and legal controversy; here a DNA analysis shows that Kennewick Man is closer to modern Native Americans than to any other extant population worldwide.

    • Morten Rasmussen
    • Martin Sikora
    • Eske Willerslev
    ResearchOpen Access
    Nature
    Volume: 523, P: 455-458

  • 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

  • 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

  • Reconstructing the genome of an ancestor: 788 Icelanders are descended from a man who arrived there in 1802. 38% of his African mother’s genome has now been reconstructed from their pedigree and the genomes and genotypes of current Icelanders up to 8 generations later.

    • Anuradha Jagadeesan
    • Ellen D. Gunnarsdóttir
    • Agnar Helgason
    Research
    Nature Genetics
    Volume: 50, P: 199-205

  • 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