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Showing 1–10 of 10 results
Advanced filters: Author: Pjotr Prins Clear advanced filters

  • Large-effect variants in autism remain elusive. Here, the authors use long-read sequencing to assemble phased genomes for 189 individuals, identifying pathogenic variants in TBL1XR1, MECP2, and SYNGAP1, plus nine candidate structural variants missed by short-read methods.

    • Yang Sui
    • Jiadong Lin
    • Evan E. Eichler
    ResearchOpen Access
    Nature Communications
    P: 1-16

    • Oswaldo Trelles
    • Pjotr Prins
    • Ritsert C. Jansen
    Correspondence
    Nature Reviews Genetics
    Volume: 12, P: 224

  • Genomic studies often lack representation from diverse populations, limiting equitable insights. Here, the authors show that the BIG Initiative captures extensive genetic diversity and reveals ancestry-linked health disparities in a community-based Mid-South cohort.

    • Silvia Buonaiuto
    • Franco Marsico
    • Vincenza Colonna
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-12

  • 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

  • PGGB is a modular framework for efficiently building unbiased pangenome graphs, supporting diverse downstream analyses.

    • Erik Garrison
    • Andrea Guarracino
    • Pjotr Prins
    Research
    Nature Methods
    Volume: 21, P: 2008-2012

  • 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