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open-source database and software  (ClinGen Resource)

 
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    ClinGen Resource open-source database and software
    Components of the framework for routine reinterpretation of individual genetic variants.
    Open Source Database And Software, supplied by ClinGen Resource, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/open-source+software+and+code/open+source+database+and+software/pmc10408279-0-9-15
    Average 90 stars, based on 1 article reviews
    open-source database and software - by Bioz Stars, 2026-09
    90/100 stars

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    1) Product Images from "Practical Considerations for Reinterpretation of Individual Genetic Variants"

    Article Title: Practical Considerations for Reinterpretation of Individual Genetic Variants

    Journal: Genetics in medicine : official journal of the American College of Medical Genetics

    doi: 10.1016/j.gim.2023.100801

    Components of the framework for routine reinterpretation of individual genetic variants.
    Figure Legend Snippet: Components of the framework for routine reinterpretation of individual genetic variants.

    Techniques Used: Software, Variant Assay

    Related Articles

    Software:

    Article Title: Practical Considerations for Reinterpretation of Individual Genetic Variants
    Article Snippet: .. Infrastructure Needed to Support Implementation , • Development of open-source database and software supported by ClinGen and ClinVar to allow for affordable and automated ways of identifying variants with new data and with classifications by other laboratories • Laboratories’ building and maintenance of databases of their own variants and interpretations, contributing data to ClinVar, and establishing parameters that trigger variant reinterpretation • Standardized data model of variant-level information, including variants and variant metadata, to automate identification of variants with discrepant interpretations and aggregate evidence to support reinterpretation. ..

    Variant Assay:

    Article Title: Practical Considerations for Reinterpretation of Individual Genetic Variants
    Article Snippet: .. Infrastructure Needed to Support Implementation , • Development of open-source database and software supported by ClinGen and ClinVar to allow for affordable and automated ways of identifying variants with new data and with classifications by other laboratories • Laboratories’ building and maintenance of databases of their own variants and interpretations, contributing data to ClinVar, and establishing parameters that trigger variant reinterpretation • Standardized data model of variant-level information, including variants and variant metadata, to automate identification of variants with discrepant interpretations and aggregate evidence to support reinterpretation. ..



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