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    Population genetic properties of differentiated human copy number polymorphisms

    (Submitter supplied) Copy number variants (CNVs) can reach appreciable frequencies in the human population, and several of these copy number polymorphisms (CNPs) have been recently associated with human diseases including lupus, psoriasis, Crohn disease, and obesity. Despite new advances, significant biases remain in terms of CNP discovery and genotyping. Developing a novel method based on single channel intensity data and benchmarking against copy numbers determined from sequencing read-depth, we successfully obtained CNP genotypes for 1489 CNPs from 487 human DNA samples from diverse ethnic backgrounds. more...
    Organism:
    Homo sapiens
    Type:
    Genome variation profiling by genome tiling array
    Platforms:
    GPL11386 GPL11387
    1434 Samples
    Download data:
    GEO (TXT)
    Series
    Accession:
    GSE26450
    ID:
    200026450

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