Genetics and Genomics

Genetics and Genomics

eLife reviews research including the genetic basis of health and disease, epigenetics, genomics, medical genetics, genetic epidemiology, and population genetics. Learn more about what we review and sign up for the latest research.
Illustration by Davide Bonazzi

Latest articles

    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    DNA methylation insulates genic regions from CTCF loops near nuclear speckles

    Shelby A Roseman, Allison P Siegenfeld ... Brian B Liau
    CTCF binding promotes chromatin-nuclear speckle interactions and gene activation after DNA demethylation, yet its binding and looping patterns are unaffected by speckle depletion.
    1. Genetics and Genomics

    WRN and WRNIP1 ATPases impose high fidelity on translesion synthesis by Y-family DNA polymerases

    Jung Hoon Yoon, Karthi Sellamuthu ... Satya Prakash
    WRN and WRNP1 ATPases together with WRN 3’ to 5’ exonuclease raise the fidelity of intrinsically highly error-prone Y-family DNA polymerases such that they perform error-free translesion synthesis.
    1. Genetics and Genomics

    Gene expression variation across genetically identical individuals predicts reproductive traits

    Amy K Webster, John H Willis ... Patrick C Phillips
    Differences among genetically identical individuals can be explained using expression levels of just a handful of genes, suggesting that environmental variation can be functionally analyzed.
    1. Genetics and Genomics
    2. Immunology and Inflammation

    Inhibition of the UFD-1-NPL-4 complex triggers an aberrant immune response in Caenorhabditis elegans

    Rajneesh Rao, Alejandro Aballay, Jogender Singh
    Revised
    Reviewed Preprint v2
    Updated
    • Valuable
    • Convincing
    1. Genetics and Genomics

    Identifying in vivo genetic dependencies of melanocyte and melanoma development

    Sarah Perlee, Yilun Ma ... Richard M White
    A zebrafish Cas9 knock-in model enables lineage-specific gene disruption to uncover genetic dependencies in development and disease.
    1. Cancer Biology
    2. Genetics and Genomics

    NAB2-STAT6 drives an EGR1-dependent neuroendocrine program in solitary fibrous tumors

    Connor Hill, Alexandra Indeglia ... Alessandro Gardini
    Molecular profiling with omics approaches reveals the resemblance between neuroendocrine malignancies and solitary fibrous tumors, rare soft tissue cancers with no effective treatment options.
    1. Genetics and Genomics

    Functional characterization of the disease-associated CCL2 rs1024611G-rs13900T haplotype: The role of the RNA-binding protein HuR

    Feroz Akhtar, Joselin Hernandez Ruiz ... Srinivas Mummidi
    Revised
    Reviewed Preprint v2
    Updated
    • Important
    • Convincing
    1. Genetics and Genomics
    2. Microbiology and Infectious Disease

    Neisseria gonorrhoeae LIN codes: a Robust, Multi-Resolution Lineage Nomenclature

    Anastasia Unitt, Made Krisna ... Odile B Harrison
    Not revised
    Reviewed Preprint v1
    • Important
    • Compelling
    1. Genetics and Genomics

    ZC3H11A mutations cause high myopia by triggering PI3K-AKT and NF-κB-mediated signaling pathway in humans and mice

    Chong Chen, Qian Liu ... Xinting Liu
    The unbiased genetic screening and animal model experiments have characterized a new candidate pathogenic gene associated with high myopia, providing a potential therapeutic intervention target for controlling the disease.
    1. Genetics and Genomics
    2. Medicine

    Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

    Mengqi Ma, Yiming Zheng ... Undiagnosed Diseases Network
    Clinical, genetic, and model organism data collectively define PLCG1 as a disease-associated gene with diverse missense variants contributing to phenotypic heterogeneity.

Senior editors

  1. Kathryn Cheah
    The University of Hong Kong, Hong Kong SAR China
  2. Alan Moses
    University of Toronto, Canada
  3. Dominique Soldati-Favre
    University of Geneva, Switzerland
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