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Showing 1–11 of 11 results
Advanced filters: Author: Elizabeth A. Marschall Clear advanced filters

  • Locityper is a general-purpose genotyper that can efficiently genotype and analyze a diverse set of genes, such as hyperpolymorphic HLA genes, using both short-read and long-read whole-genome sequencing data.

    • Timofey Prodanov
    • Elizabeth G. Plender
    • Tobias Marschall
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 2901-2908

  • Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

    • James E. D. Thaventhiran
    • Hana Lango Allen
    • Kenneth G. C. Smith
    Research
    Nature
    Volume: 583, P: 90-95

  • Long-term data on sockeye salmon in Alaska show how warmer temperatures during the juvenile freshwater stage of this species can drive shifts in later life history patterns.

    • Elizabeth A. Marschall
    News & Views
    Nature Ecology & Evolution
    Volume: 3, P: 875-876

  • Reductions in winter duration under climate change may have negative consequences for ectotherms adapted to seasonal temperature regimes. Here Farmeret al. show how short winters have, in part, caused failed lake fishery recruitment by altering spawning phenology and lowering the quality of eggs and larvae.

    • Troy M. Farmer
    • Elizabeth A. Marschall
    • Stuart A. Ludsin
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-10

  • Identification and characterization, using a comprehensive embryonic phenotyping pipeline, of 410 lethal alleles during the generation of the first 1,751 of 5,000 unique gene knockouts produced by the International Mouse Phenotyping Consortium.

    • Mary E. Dickinson
    • Ann M. Flenniken
    • Stephen A. Murray
    Research
    Nature
    Volume: 537, P: 508-514

  • Konstantinos Lazaridis, Carl Anderson and colleagues report results of a genome-wide association study of primary sclerosing cholangitis (PSC). They identify four new susceptibility loci for PSC and quantify the correlation of common genetic variation shared between PSC and inflammatory bowel diseases.

    • Sun-Gou Ji
    • Brian D Juran
    • Carl A Anderson
    Research
    Nature Genetics
    Volume: 49, P: 269-273

  • Systemic dissection of sexually dimorphic phenotypes in mice is lacking. Here, Karp and the International Mouse Phenotype Consortium show that approximately 10% of qualitative traits and 56% of quantitative traits in mice as measured in laboratory setting are sexually dimorphic.

    • Natasha A. Karp
    • Jeremy Mason
    • Jacqueline K. White
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-12

  • Discovery of causal variants for monogenic disorders has been facilitated by whole exome and genome sequencing, but does not provide a diagnosis for all patients. Here, the authors propose a Full Spectrum of Intolerance to Loss-of-Function (FUSIL) categorization that integrates gene essentiality information to aid disease gene discovery.

    • Pilar Cacheiro
    • Violeta Muñoz-Fuentes
    • Coleen Kane
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-16