2,798 results found
    1. Cell Biology

    A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

    Natalia Felipe-Medina et al.
    Genetic and biochemical analysis reveal a variant in HSF2BP causing POI and C19ORF57/BRME1 as an interactor and stabilizer of HSF2BP by forming a complex with BRCA2, RAD51, RPA and PALB2.
    1. Cancer Biology
    2. Genetics and Genomics

    A highly accurate platform for clone-specific mutation discovery enables the study of active mutational processes

    Mohammad KaramiNejadRanjbar et al.
    A robust library preparation and variant calling strategy (DigiPico/MutLX) eliminates false positive single nucleotide variants from picogram quantities of DNA following whole genome amplification.
    1. Genetics and Genomics

    Science Forum: The single-cell eQTLGen consortium

    MGP van der Wijst et al.
    The single-cell eQTLGen consortium aims to pinpoint the cellular contexts in which disease-causing genetic variants affect gene expression and its regulation.
    1. Cancer Biology
    2. Genetics and Genomics

    Tumor Evolution: Finding the mutations that drive resistance

    Nadine Bley
    Mutations that allow tumors to evolve and become resistant to treatment can be readily identified with a new sequencing approach.
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  1. Point of View: Four erroneous beliefs thwarting more trustworthy research

    Mark Yarborough et al.
    Strategies to improve public trust in biomedical research are being hindered by a scientific mindset that stifles interest in reform.
  2. Meta-Research: How significant are the public dimensions of faculty work in review, promotion and tenure documents?

    Juan P Alperin et al.
    An analysis of review, promotion and tenure documents from 129 US and Canadian universities suggests institutions could better fulfill their public missions by changing how they incentivize the public dimensions of faculty work.
    1. Epidemiology and Global Health

    Science Forum: Unit of analysis issues in laboratory-based research

    Nick R Parsons et al.
    A simulation study is used to demonstrate how mistakes in identifying the experimental unit and the unit of analysis can lead to incorrect analyses and inappropriate inferences when reporting research studies.
    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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  3. Meta-Research: Questionable research practices may have little effect on replicability

    Rolf Ulrich, Jeff Miller
    Although questionable research practices inflate false positive rates, they have little effect on replicability because they also increase power.
    1. Neuroscience
    Scatter plot

    Science Forum: Ten common statistical mistakes to watch out for when writing or reviewing a manuscript

    Tamar R Makin, Jean-Jacques Orban de Xivry
    What can authors and reviewers do to keep common statistical mistakes out of the literature?

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