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Showing 1–8 of 8 results
Advanced filters: Author: PingHsun Hsieh Clear advanced filters

  • 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

  • The complete assembly of human chromosome 8 resolves previous gaps and reveals hidden complex forms of genetic variation, enabling functional and evolutionary characterization of primate centromeres.

    • Glennis A. Logsdon
    • Mitchell R. Vollger
    • Evan E. Eichler
    ResearchOpen Access
    Nature
    Volume: 593, P: 101-107

  • A high-quality bonobo genome assembly provides insights into incomplete lineage sorting in hominids and its relevance to gene evolution and the genetic relationship among living hominids.

    • Yafei Mao
    • Claudia R. Catacchio
    • Evan E. Eichler
    ResearchOpen Access
    Nature
    Volume: 594, P: 77-81

  • Analysis of whole-genome sequence data from 3,474 families finds an excess of private, likely gene-disrupting variants in individuals with autism. These variants are under purifying selection and suggest candidate genes not previously associated with autism.

    • Amy B. Wilfert
    • Tychele N. Turner
    • Evan E. Eichler
    Research
    Nature Genetics
    Volume: 53, P: 1125-1134

  • 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

  • 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