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Showing 1–14 of 14 results
Advanced filters: Author: Glenn Hickey 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

  • Reference assemblies of great ape sex chromosomes show that Y chromosomes are more variable in size and sequence than X chromosomes and provide a resource for studies on human evolution and conservation genetics of non-human apes.

    • Kateryna D. Makova
    • Brandon D. Pickett
    • Adam M. Phillippy
    ResearchOpen Access
    Nature
    Volume: 630, P: 401-411

  • Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.

    • Glennis A. Logsdon
    • Peter Ebert
    • Tobias Marschall
    ResearchOpen Access
    Nature
    Volume: 644, P: 430-441

  • Complete sequences of chromosomes telomere-to-telomere from chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan and siamang provide a comprehensive and valuable resource for future evolutionary comparisons.

    • DongAhn Yoo
    • Arang Rhie
    • Evan E. Eichler
    ResearchOpen Access
    Nature
    Volume: 641, P: 401-418

  • This work introduces a k-mer-based approach to customizing a pangenome reference, making it more relevant to a new sample of interest. This method enhances the accuracy of genotyping small variants and large structural variants.

    • Jouni Sirén
    • Parsa Eskandar
    • Benedict Paten
    Research
    Nature Methods
    Volume: 21, P: 2017-2023

  • 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

  • Whole-genome alignment of 239 primate species reveals noncoding regulatory elements that are under selective constraint in primates but not in other placental mammals, that are enriched for variants that affect human gene expression and complex traits in diseases.

    • Lukas F. K. Kuderna
    • Jacob C. Ulirsch
    • Kyle Kai-How Farh
    ResearchOpen Access
    Nature
    Volume: 625, P: 735-742

  • 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