org.hammerlab.guacamole.variants

Concordance

object Concordance

As a convenience to users experimenting with different callers, some variant callers include functionality to compare the called variants to a gold standard VCF after they are computed, in the same job. We implement that logic here.

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  1. trait ConcordanceArgs extends AnyRef

    Arguments that callers can include to support concordance calculations.

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  8. def computePrecisionAndRecall(calledGenotypes: RDD[bdgenomics.formats.avro.Genotype], trueGenotypes: RDD[bdgenomics.formats.avro.Genotype], excludeSNVs: Boolean = false, excludeIndels: Boolean = true, chromosome: String = null): (Double, Double, Double)

    Evaluate a set of called genotypes by computing precision, recall and F1-Score

    Evaluate a set of called genotypes by computing precision, recall and F1-Score

    Precision = Correct Calls / All Calls Made = Correct Calls / (Correct Calls + Incorrect Calls) Recall = Correct Calls / All True Variants = Correct Calls / (Correct Calls + Incorrect Omissions)

    F1-Score = 2 * (Precision * Recall) / (Precision + Recall)

    All three metrics range from 0 to 1, where 1 would be perfect.

    calledGenotypes

    Genotypes to test

    trueGenotypes

    Known-set of validated genotypes

    excludeSNVs

    true if want to exclude single nucleotides polymorphism in the evaluation (default: false)

    excludeIndels

    true if want to exclude insertions in the evaluation in the evaluation (default: true)

    chromosome

    name of a chromosome, if any, to filter to (default: null)

    returns

    precision, recall and f1score

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  15. def loadGenotypes(path: String, sc: SparkContext): RDD[bdgenomics.formats.avro.Genotype]

    Load genotypes from ADAM Parquet or VCF file

    Load genotypes from ADAM Parquet or VCF file

    path

    path to VCF or ADAM genotypes

    sc

    spark context

    returns

    RDD of ADAM Genotypes

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  17. final def notify(): Unit

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  18. final def notifyAll(): Unit

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  19. def printGenotypeConcordance(args: ConcordanceArgs, genotypes: RDD[bdgenomics.formats.avro.Genotype], sc: SparkContext): Unit

    Evaluate a set of called genotypes and print precision, recall and F1-Score

    Evaluate a set of called genotypes and print precision, recall and F1-Score

    args

    parsed arguments

    genotypes

    ADAM genotypes (i.e. the variants)

    sc

    spark context

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