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implicit class ACMGOperations extends AnyRef

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Instance Constructors

  1. new ACMGOperations(df: DataFrame)

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  8. def getBA1(colFreq: String = "external_frequencies"): Column

    BA1 - ACMG criteria Stand-alone evidence of benign impact.

    BA1 - ACMG criteria Stand-alone evidence of benign impact. Allele frequency is >5% in a large-scale sequencing project (1000 Genomes project, TOPMed BRAVO, gnomAD)

    Input DataFrame must contain an external_frequencies column.

    returns

    A struct containing the study with the highest AF, the AF and the BA1 score : StructType( StructField(study, StringType, true), StructField(max_af, DoubleType, true), StructField(score, BooleanType, true) )

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