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Showing 1–4 of 4 results
Advanced filters: Author: Wolfram Höps Clear advanced filters

  • Intermediate-coverage long-read sequencing in 1,019 diverse humans from the 1000 Genomes Project, representing 26 populations, enables the generation of comprehensive population-scale structural variant catalogues comprising common and rare alleles.

    • Siegfried Schloissnig
    • Samarendra Pani
    • Jan O. Korbel
    ResearchOpen Access
    Nature
    Volume: 644, P: 442-452

  • Structural variants (SV) can accumulate in repeat-rich parts of the genome and transform them in unexpected ways. Here, with their new assembly-based genotyper (NAHRwhals), the authors verify multi-step SVs in 37 human loci and identify alleles at risk for copy-number variation.

    • Wolfram Höps
    • Tobias Rausch
    • Fritz J. Sedlazeck
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-15

  • Genome-wide detection of inversions in great ape genomes by using long-read sequencing and single-cell DNA template strand sequencing (Strand-seq) expands the number of known ape inversions and identifies several regions that have recurrently toggled between a direct and an inverted state during primate evolution.

    • David Porubsky
    • Ashley D. Sanders
    • Evan E. Eichler
    Research
    Nature Genetics
    Volume: 52, P: 849-858