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Showing 1–8 of 8 results
Advanced filters: Author: Jennifer Kordosky Clear advanced filters

  • An initial draft of the human pangenome is presented and made publicly available by the Human Pangenome Reference Consortium; the draft contains 94 de novo haplotype assemblies from 47 ancestrally diverse individuals.

    • Wen-Wei Liao
    • Mobin Asri
    • Benedict Paten
    ResearchOpen Access
    Nature
    Volume: 617, P: 312-324

  • Analysis of 170 human genomes assembled using long-read sequencing provides a map of structural variation within regions of segmental duplication and identifies novel candidate protein-coding genes supported by full-length Iso-Seq reads.

    • Hyeonsoo Jeong
    • Philip C. Dishuck
    • Evan E. Eichler
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 390-401

  • Comparisons within the human pangenome establish that homologous regions on short arms of heterologous human acrocentric chromosomes actively recombine, leading to the high rate of Robertsonian translocation breakpoints in these regions.

    • Andrea Guarracino
    • Silvia Buonaiuto
    • Erik Garrison
    ResearchOpen Access
    Nature
    Volume: 617, P: 335-343

  • A study comparing the pattern of single-nucleotide variation between unique and duplicated regions of the human genome shows that mutation rate and interlocus gene conversion are elevated in duplicated regions.

    • Mitchell R. Vollger
    • Philip C. Dishuck
    • Evan E. Eichler
    ResearchOpen Access
    Nature
    Volume: 617, P: 325-334

  • 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