4,015 results found
    1. Genetics and Genomics
    2. Microbiology and Infectious Disease

    Panton–Valentine leucocidin is the key determinant of Staphylococcus aureus pyomyositis in a bacterial GWAS

    Bernadette C Young et al.
    Genome-wide association studies have established staphylococcal pyomyositis as a disease whose pathogenesis depends critically on expression of a single toxin, Panton–Valentine leukocidin.
    1. Genetics and Genomics

    Discovery and validation of sub-threshold genome-wide association study loci using epigenomic signatures

    Xinchen Wang et al.
    Epigenomic signatures overlapping disease-associated variants from genome-wide association studies help prioritize new variants in sub-threshold loci whose biological relevance is experimentally confirmed.
    1. Genetics and Genomics

    Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability

    Niko Välimäki et al.
    Genetic predisposition to uterine leiomyomas arises from variation at loci for genetic stability and genitourinary development, and in part explains the frequent occurrence of the condition in women with African origin.
    1. Genetics and Genomics

    Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci

    Matthias Thurner et al.
    Human pancreatic islet high-resolution chromatin state maps generated from DNA methylation, open chromatin and ChIP-seq mark data facilitate the characterisation of regulatory mechanisms at type 2 diabetes genome-wide association study loci.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

    Mashaal Sohail et al.
    Polygenic selection signals in humans estimated from previously existing GWAS should be viewed with caution due to concerns about residual population stratification.
    1. Epidemiology and Global Health
    2. Genetics and Genomics

    Clusters of polymorphic transmembrane genes control resistance to schistosomes in snail vectors

    Jacob A Tennessen et al.
    A region of the Biomphalaria genome, containing highly divergent haplotypes with different combinations of transmembrane genes, strongly impacts whether these snails can transmit parasitic schistosomes.
    1. Genetics and Genomics

    Genomic regions controlling shape variation in the first upper molar of the house mouse

    Luisa F Pallares et al.
    An association mapping in wild mice revealed the first candidate loci for within-population molar shape variation and the phenotypic impact of such candidate loci was quantified and validated.
    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

    GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

    Nasa Sinnott-Armstrong et al.
    Across urate, IGF-1, and testosterone, thousands of dispersed variants contribute to heritability, while previously characterized core pathways are highly enriched for associations and reveal feedback mechanisms governing serum biomarker levels.
    1. Genetics and Genomics

    Novel genetic loci affecting facial shape variation in humans

    Ziyi Xiong et al.
    A comprehensive genome scan of 18,000 multi-ethnic individuals with 3-dimensional facial images highlighted multiple face-associated genetic loci for which regulatory activities in human neural cells were established.

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