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Showing 1–8 of 8 results
Advanced filters: Author: Philip C. Dishuck Clear advanced filters

  • Analysis of 170 human genomes assembled using long-read sequencing provides a map of structural variation within regions of segmental duplication and identifies novel candidate protein-coding genes supported by full-length Iso-Seq reads.

    • Hyeonsoo Jeong
    • Philip C. Dishuck
    • Evan E. Eichler
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 390-401

  • 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

  • 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

  • A wealth of gene expression data is publicly available, yet is little use without additional human curation. Ma’ayan and colleagues report a crowdsourcing project involving over 70 participants to annotate and analyse thousands of human disease-related gene expression datasets.

    • Zichen Wang
    • Caroline D. Monteiro
    • Avi Ma’ayan
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-11