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Useful resources for the interpretation of genetic tests and data

Discussion in 'Resources' started by Hoopoe, Aug 28, 2022.

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  1. Hoopoe

    Hoopoe Senior Member (Voting Rights)

    Messages:
    5,252
    Sequence Variant Nomenclature
    This website clearly explains what codes like NG_012232.1(NM_004006.2):c.93+1G>T and p.Trp24Cys mean.

    Ensembl
    This website has good tools, such as a variant effect predictor. It's more for those with a (bio)informatics background.

    ClinVar
    A public archive of the relationships between gene variants and diseases, with supporting evidence.

    OMIM
    An online catalog of human genes and genetic disorders.
     
    Last edited: Sep 1, 2022
    Hoopoe, Aug 28, 2022
    #1
    Peter Trewhitt and Amw66 like this.

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