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genome aggregation database  (Sophia Genetics)


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    Sophia Genetics genome aggregation database
    Genome Aggregation Database, supplied by Sophia Genetics, used in various techniques. Bioz Stars score: 97/100, based on 1524 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/genome+aggregation+database/Rare+disorders/pmc11889535-88-10-24
    Average 97 stars, based on 1524 article reviews
    genome aggregation database - by Bioz Stars, 2026-10
    97/100 stars

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    Related Articles

    Mutagenesis:

    Article Title: Improvement of Variant Reclassification in Genetic Neurodevelopmental Conditions
    Article Snippet: .. Genetic counselors used publicly available databases, including the Genome Aggregation Database (gnomAD),9 ClinVar,10 Human Gene Mutation Database (HGMD),11 University of California Santa Cruz (UCSC) Genome Browser,12 and Clinical Genome Resource (ClinGen),13 Alamut Visual Plus version 1.6.1, SOPHiA GENETICS, and internal data to assess variants. ..

    Variant Assay:

    Article Title: Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
    Article Snippet: .. The frequency of each disease‐causing variant was determined using the Genome Aggregation Database (gnomAD)., The protein‐level impact(s) of each disease‐causing variant was predicted using Alamut Visual. ..



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