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5,428 results found
    1. Genetics and Genomics

    High-resolution mapping reveals hundreds of genetic incompatibilities in hybridizing fish species

    Molly Schumer et al.
    Genetic incompatibilities are common and widely distributed throughout the genomes of swordtail fish, and prevent the regions of the genome around them from being exchanged between different species.
    1. Genetics and Genomics
    2. Medicine

    Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

    Gillian Morven Belbin et al.
    A health-system embedding method for genomic discovery and clinical characterization of disease highlights the importance of documenting a wider spectrum of genetic disorders in diverse populations.
    1. Genetics and Genomics

    Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes

    David A Knowles et al.
    Genetic variants that modulate transcriptomic response to doxorubicin in human iPSC-derived cardiomyocytes are predictive of cardiac damage and in vivo sensitivity to anthracycline cardiotoxicity.
    1. Evolutionary Biology
    2. Genetics and Genomics

    The yeast mating-type switching endonuclease HO is a domesticated member of an unorthodox homing genetic element family

    Aisling Y Coughlan et al.
    A family of homing genetic elements that look like inteins but work differently is the progenitor of the endonuclease that enables Saccharomyces cerevisiae to change its mating type.
    1. Biochemistry and Chemical Biology

    Chemical genetics and proteome-wide site mapping reveal cysteine MARylation by PARP-7 on immune-relevant protein targets

    Kelsie M Rodriguez et al.
    A combined chemical genetics, proximity labeling, and ADP-ribose site mapping approach shows that PARP-7 mono-ADP-ribosylates immune-relevant proteins on cysteine amino acids.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals

    Agata Wesolowska-Andersen et al.
    Combination of deep learning models trained on tissue-specific genomic data and fine-mapping approaches supports efforts to identify causal variants and mechanisms at GWAS loci.
    1. Developmental Biology

    Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel

    Eva Lana-Elola et al.
    A panel of seven new mouse strains with chromosomal duplications is used to identify a minimal genetic region required in three copies to cause congenital heart defects typical of human Down syndrome.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Time-resolved mapping of genetic interactions to model rewiring of signaling pathways

    Florian Heigwer et al.
    Genetic interaction analysis by combinatorial genetic perturbation and high-throughput imaging maps time- and context-dependent crosstalk between signaling pathways.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Genetic mapping of etiologic brain cell types for obesity

    Pascal N Timshel et al.
    Unbiased computational integration of single-cell- and human genetics data shows that susceptibility to obesity is driven by a broad set of neuronal populations across the brain.
    1. Genetics and Genomics

    Simultaneous quantification of mRNA and protein in single cells reveals post-transcriptional effects of genetic variation

    Christian Brion et al.
    A CRISPR-based dual reporter assay enables genetic mapping of DNA variants that specifically affect mRNA or protein levels in trans.

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