3,945 results found
    1. Genomics and 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. Immunology and Inflammation
    2. Physics of Living Systems

    Role of framework mutations and antibody flexibility in the evolution of broadly neutralizing antibodies

    Victor Ovchinnikov et al.
    Computer simulations of the evolution of broadly neutralizing antibodies against HIV suggest that non-traditional pathways involving framework mutations which lead initially to increased antibody flexibility do occur, but can be avoided by appropriate vaccine design.
    1. Genomics and Evolutionary Biology
    2. Microbiology and Infectious Disease

    A novel twelve class fluctuation test reveals higher than expected mutation rates for influenza A viruses

    Matthew D Pauly et al.
    A new assay for specific mutational classes provides preciseestimates of the mutation rates and mutational bias for influenza A viruses.
    1. Human Biology and Medicine

    A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

    Baptiste Fouquet et al.
    Bilallelic mutations of FANCM, a DNA-damage response gene whose heterozygous mutations predispose to breast cancer, are involved in a familial case of Primary Ovarian Insufficiency establishing a link between infertility and cancer.
    1. Genomics and Evolutionary Biology

    Quiescence unveils a novel mutational force in fission yeast

    Serge Gangloff et al.
    The quiescence-driven mutational landscape reveals replication-independent mutagenesis as a novel evolutionary force.
    1. Genomics and Evolutionary Biology

    Moderate nucleotide diversity in the Atlantic herring is associated with a low mutation rate

    Chungang Feng et al.
    The Atlantic herring has the lowest mutation rate yet estimated in a vertebrate species and this partially explains its moderate nucleotide diversity given the large population size.
    1. Genomics and Evolutionary Biology

    Spontaneous mutations and the origin and maintenance of quantitative genetic variation

    Wen Huang et al.
    Whole genome DNA sequence analysis, genome wide gene expression and complex organismal phenotypes in Drosophila mutation accumulation lines provide a robust estimate of the spontaneous mutation rate and mutational effects.
    1. Structural Biology and Molecular Biophysics
    2. Computational and Systems Biology

    Codon-level information improves predictions of inter-residue contacts in proteins by correlated mutation analysis

    Etai Jacob et al.
    Correlated mutation analysis using a combination of amino acid and codon sequence alignments improves predictions of amino acid residue contacts in proteins.
    1. Genomics and Evolutionary 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. Genomics and Evolutionary Biology
    2. Human Biology and Medicine

    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.

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