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Showing 1–16 of 16 results
Advanced filters: Author: Katherine Phillippy Clear advanced filters

  • 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

  • We present the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference.

    • Arang Rhie
    • Sergey Nurk
    • Adam M. Phillippy
    Research
    Nature
    Volume: 621, P: 344-354

  • 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

  • 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

  • A comparison of two complete sets of human centromeres reveals that the centromeres show at least a 4.1-fold increase in single-nucleotide variation compared with their unique flanks, and up to 3-fold variation in size, resulting from an accelerated mutation rate.

    • Glennis A. Logsdon
    • Allison N. Rozanski
    • Evan E. Eichler
    ResearchOpen Access
    Nature
    Volume: 629, P: 136-145

  • 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

  • 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

  • New reference genomes of the two extant monotreme lineages (platypus and echidna) reveal the ancestral and lineage-specific genomic changes that shape both monotreme and mammalian evolution.

    • Yang Zhou
    • Linda Shearwin-Whyatt
    • Guojie Zhang
    ResearchOpen Access
    Nature
    Volume: 592, P: 756-762

  • Methods to produce haplotype-resolved genome assemblies often rely on access to family trios. The authors present FALCON-Phase, a tool that combines ultra-long range Hi-C chromatin interaction data with a long read de novo assembly to extend haplotype phasing to the contig or scaffold level.

    • Zev N. Kronenberg
    • Arang Rhie
    • Sarah B. Kingan
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-10

  • 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