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Useful resources for the interpretation of genetic tests and data

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

  1. strategist

    strategist Senior Member (Voting Rights)

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

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


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

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

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