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Showing 1–16 of 16 results
Advanced filters: Author: Mitchell R. Vollger Clear advanced filters

  • 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

  • Long-read chromatin assay reveals (1) a novel class of accessible chromatin regions, (2) accessibility within individual LTR retrotransposons and (3) the relationship between diffuse accessibility, gene body methylation and hAT transposon insertion.

    • Kerry L. Bubb
    • Morgan O. Hamm
    • Christine Queitsch
    Research
    Nature Plants
    Volume: 11, P: 1181-1192

  • 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

  • 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

  • Simultaneous profiling of the genome, methylome, epigenome and transcriptome using single-molecule chromatin fiber sequencing and multiplexed arrays isoform sequencing identifies the genetic and molecular basis of an undiagnosed Mendelian disease case with an X;13-balanced translocation.

    • Mitchell R. Vollger
    • Jonas Korlach
    • Andrew B. Stergachis
    Research
    Nature Genetics
    Volume: 57, P: 469-479

  • 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

  • High-coverage, ultra-long-read nanopore sequencing is used to create a new human genome assembly that improves on the coverage and accuracy of the current reference (GRCh38) and includes the gap-free, telomere-to-telomere sequence of the X chromosome.

    • Karen H. Miga
    • Sergey Koren
    • Adam M. Phillippy
    ResearchOpen Access
    Nature
    Volume: 585, P: 79-84

  • Segmental Duplication Assembler (SDA) uses long sequence reads to resolve segmental duplications that are collapsed in current genome assemblies. These assemblies correspond in total to the length of an average human chromosome.

    • Mitchell R. Vollger
    • Philip C. Dishuck
    • Evan E. Eichler
    Research
    Nature Methods
    Volume: 16, P: 88-94

  • 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

  • Long-read sequencing is becoming more accessible and more accurate. In this Review, Logsdon et al. discuss the currently available platforms, how the technologies are being applied to assemble and phase human genomes, and their impact on improving our understanding of human genetic variation.

    • Glennis A. Logsdon
    • Mitchell R. Vollger
    • Evan E. Eichler
    Reviews
    Nature Reviews Genetics
    Volume: 21, P: 597-614