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    1. Genetics and Genomics

    Quantifying concordant genetic effects of de novo mutations on multiple disorders

    Hanmin Guo, Lin Hou ... Qiongshi Lu
    EncoreDNM identifies abundant enrichment correlations across disorders for de novo mutations.
    1. Cell Biology
    2. Physics of Living Systems

    De novo identification of universal cell mechanics gene signatures

    Marta Urbanska, Yan Ge ... Jochen Guck
    Revised
    Reviewed Preprint v2
    Updated
    • Important
    • Compelling
    1. Evolutionary Biology
    2. Genetics and Genomics

    Repeated origins, widespread gene flow, and allelic interactions of target-site herbicide resistance mutations

    Julia M Kreiner, George Sandler ... Stephen I Wright
    The spread of herbicide resistance in one of the most problematic weeds in North America occurs through both recent, repeated mutational origins and gene flow across an international network of agricultural fields.
    1. Evolutionary Biology

    Long non-coding RNAs as a source of new peptides

    Jorge Ruiz-Orera, Xavier Messeguer ... M Mar Alba
    Ribosome profiling data from several eukaryotic species provides strong evidence that many long non-coding RNA molecules encode novel short proteins.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Epistasis between mutator alleles contributes to germline mutation spectrum variability in laboratory mice

    Thomas A Sasani, Aaron R Quinlan, Kelley Harris
    Germline mutation rates in mice are shaped by two mutator alleles that interact epistatically, showing that DNA repair defects that map to different loci can have snowballing effects.
    1. Medicine

    Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

    Anne Hebert, Annet Simons ... Caspar I van der Made
    Systematic assessment of de novo variants in patients with sporadic inborn errors of immunity led to the identification of promising candidate variants in known and novel immune genes, supporting its implementation in the routine diagnostic evaluation of these patients.
    1. Biochemistry and Chemical Biology
    2. Ecology

    De novo synthesis of a sunscreen compound in vertebrates

    Andrew R Osborn, Khaled H Almabruk ... Taifo Mahmud
    Many vertebrates are able to synthesize a sunscreen compound de novo and the pathway involved can be used for heterologous production of the compound in yeast.
    1. Computational and Systems Biology
    2. Evolutionary Biology

    Expression noise facilitates the evolution of gene regulation

    Luise Wolf, Olin K Silander, Erik van Nimwegen
    In-lab evolution of synthetic promoters has revealed a novel general mechanism for de novo evolution of gene regulation, and highlights the crucial role of expression noise in this process.
    1. Neuroscience

    Seizures, behavioral deficits, and adverse drug responses in two new genetic mouse models of HCN1 epileptic encephalopathy

    Andrea Merseburg, Jacquelin Kasemir ... Bina Santoro
    Two genetic mouse models for HCN1-linked developmental epileptic encephalopathy display distinct biophysical changes in HCN1 ion channel properties but similar worsening of seizures in response to antiepileptic drugs, thereby recapitulating key features of the human disease.
    1. Microbiology and Infectious Disease

    A novel computational pipeline for var gene expression augments the discovery of changes in the Plasmodium falciparum transcriptome during transition from in vivo to short-term in vitro culture

    Clare Andradi-Brown, Jan Stephan Wichers-Misterek ... Anna Bachmann
    An enhanced bioinformatic pipeline to quantify Plasmodium falciparum core gene and polymorphic var gene expression revealed changes occurring during early culture adaptation of parasites from naturally infected individuals.