962 results found
    1. Genetics and Genomics

    Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks

    Hui Zhao et al.
    A comprehensive catalogue of somatic mutations accumulating in MMR-deficient tumors highlights their relevance in the context of human genetic evolution, for the diagnosis of microsatellite instability and the provision of targeted treatment options.
    1. Cancer Biology
    2. Genetics and Genomics

    Mismatch repair-signature mutations activate gene enhancers across human colorectal cancer epigenomes

    Stevephen Hung et al.
    Non-coding mutations in microsatellite-instable (MSI) colorectal tumors are prevalent and activate cancer-specific enhancers, thereby disrupting gene expression control.
    1. Genetics and Genomics
    2. Cancer Biology

    Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

    Young Seok Ju et al.
    Identifying 1,907 mitochondrial somatic mutations from 1,675 tumor tissues provides new insights into the causes and effects of the mitochondrial genome mutations found in human cancers.
    1. Evolutionary Biology

    Rapid evolution of the human mutation spectrum

    Kelley Harris, Jonathan K Pritchard
    Heritable mutations tend to occur within different DNA sequence contexts in different human populations, suggesting that DNA replication and repair often change in efficacy over only a few hundred generations of evolution.
    1. Evolutionary Biology

    Population Genetics: Global clues to the nature of genomic mutations in humans

    Aylwyn Scally
    An analysis of worldwide human genetic variation reveals the footprints of ancient changes in genomic mutation processes.
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    1. Cancer Biology

    Translational Oncology: A signature for success

    Joaquín M Espinosa, Kelly D Sullivan
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    1. Cancer Biology

    Biomarkers: Improving survival prediction for melanoma

    Mykyta Artomov
    The survival of patients with cutaneous melanoma can be accurately predicted using just four DNA methylation marks.
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    1. Cell Biology
    2. Computational and Systems Biology

    Science Forum: The Human Cell Atlas

    Aviv Regev et al.
    Advances in techniques for analysing single cells and tissues have inspired an international effort to create comprehensive reference maps of all human cells - the fundamental units of life - as a basis for both understanding human health and diagnosing, monitoring and treating disease.
    1. Ecology
    Deer mouse illustration

    The Natural History of Model Organisms: Peromyscus mice as a model for studying natural variation

    Nicole L Bedford, Hopi E Hoekstra
    The deer mouse (Peromyscus) has emerged as a model system for studying many aspects of biology, supported by extensive historical knowledge of its fascinating and varied natural history.

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