1,006 results found
    1. Evolutionary Biology
    2. Genetics and Genomics

    Testis single-cell RNA-seq reveals the dynamics of de novo gene transcription and germline mutational bias in Drosophila

    Evan Witt et al.
    Single-cell RNA-sequencing and germline substitutions provide novel insights into how testis is a hotspot for evolutionary innovation of genes, expression, and mutation at the single-cell level.
    1. Genetics and Genomics

    Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

    Thomas A Sasani et al.
    Rates of germline mutation accumulation are highly variable across families of similar genetic ancestry, and post-zygotic mosaicism is a substantial source of de novo mutations.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Craniosynostosis: An epistatic explanation

    Yoshihiro Komatsu, Yuji Mishina
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    1. Evolutionary Biology
    2. Genetics and Genomics

    Spermatogenesis: A hotspot for new genes

    Anne-Marie Dion-Côté
    Single-cell RNA-sequencing in fruit flies gives an unprecedented picture of how new genes are expressed during the formation of sperm.
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    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

    Andrew T Timberlake et al.
    Epistatic interactions of rare loss of function mutations in SMAD6 and a common variant modifier near BMP2 are the most common cause of midline craniosynostosis in humans.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

    Ute I Scholl et al.
    A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.
    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. Ecology
    2. Human Biology and Medicine

    Point of View: A transatlantic perspective on 20 emerging issues in biological engineering

    Bonnie C Wintle et al.
    Horizon scanning has been used to identify opportunities and risks presented by 20 emerging issues in the field of biological engineering.
  1. Meta-Research: Tracking the popularity and outcomes of all bioRxiv preprints

    Richard J Abdill, Ran Blekhman
    Data are reported for the monthly number of uploads to and downloads from bioRxiv, and for the number of preprints that are later published in peer-reviewed journals.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Philosophy of Biology: The meanings of 'function' in biology and the problematic case of de novo gene emergence

    Diane Marie Keeling et al.
    A lexicon to help scientists and philosophers discuss the meaning of function in molecular biology more clearly is proposed.

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