package vcf

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  1. class AssessPhasing extends FgBioTool with LazyLogging
    Annotations
    @ClpAnnotation()
  2. case class AssessPhasingMetric (num_called: Long = 0, num_phased: Long = 0, num_truth: Long = 0, num_truth_phased: Long = 0, num_called_with_truth_phased: Long = 0, num_phased_with_truth_phased: Long = 0, num_truth_phased_in_called_block: Long = 0, num_both_phased_in_called_block: Long = 0, num_short_switch_errors: Long = 0, num_long_switch_errors: Long = 0, num_switch_sites: Long = 0, num_illumina_point_switch_errors: Long = 0, num_illumina_long_switch_errors: Long = 0, num_illumina_switch_sites: Long = 0, frac_phased: Double = 0, frac_phased_with_truth_phased: Double = 0, frac_truth_phased_in_called_block: Double = 0, frac_phased_with_truth_phased_in_called_block: Double = 0, short_accuracy: Double = 0, long_accuracy: Double = 0, illumina_point_accuracy: Double = 0, illumina_long_accuracy: Double = 0, mean_called_block_length: Double = 0, median_called_block_length: Double = 0, stddev_called_block_length: Double = 0, n50_called_block_length: Double = 0, n90_called_block_length: Double = 0, l50_called: Double = 0, mean_truth_block_length: Double = 0, median_truth_block_length: Double = 0, stddev_truth_block_length: Double = 0, n50_truth_block_length: Double = 0, n90_truth_block_length: Double = 0, l50_truth: Double = 0) extends Metric with Product with Serializable

    Some counts about phasing

    Some counts about phasing

    num_called

    the number of variants called.

    num_phased

    the number of variants called with phase.

    num_truth

    the number of variants with known truth genotypes.

    num_truth_phased

    the number of variants with known truth genotypes with phase.

    num_called_with_truth_phased

    the number of variants called that had a known phased genotype.

    num_phased_with_truth_phased

    the number of variants called with phase that had a known phased genotype.

    num_truth_phased_in_called_block

    the number of known phased variants that were in a called phased block.

    num_both_phased_in_called_block

    the number of called phase variants that had a known phased genotype in a called phased block.

    num_short_switch_errors

    the number of short switch errors (isolated switch errors).

    num_long_switch_errors

    the number of long switch errors (# of runs of consecutive switch errors).

    num_switch_sites

    the number of sites that could be (short or long) switch errors (i.e. the # of sites with both known and called phased variants).

    num_illumina_point_switch_errors

    the number of point switch errors (defined in http://dx.doi.org/10.1038%2Fng.3119).

    num_illumina_long_switch_errors

    the number of long switch errors (defined in http://dx.doi.org/10.1038%2Fng.3119).

    num_illumina_switch_sites

    the number of sites that could be (point or long) switch errors (defined in http://dx.doi.org/10.1038%2Fng.3119).

    frac_phased

    the fraction of called variants with phase.

    frac_phased_with_truth_phased

    the fraction of known phased variants called with phase.

    frac_truth_phased_in_called_block

    the fraction of phased known genotypes in a called phased block.

    frac_phased_with_truth_phased_in_called_block

    the fraction of called phased variants that had a known phased genotype in a called phased block.

    short_accuracy

    1 - (num_short_switch_errors / num_switch_sites)

    long_accuracy

    1 - (num_long_switch_errors / num_switch_sites)

    illumina_point_accuracy

    1 - (num_illumina_point_switch_errors / num_illumina_switch_sites )

    illumina_long_accuracy

    1 - (num_illumina_long_switch_errors / num_illumina_switch_sites )

    mean_called_block_length

    the mean phased block length in the callset.

    median_called_block_length

    the median phased block length in the callset.

    stddev_called_block_length

    the standard deviation of the phased block length in the callset.

    n50_called_block_length

    the N50 of the phased block length in the callset.

    n90_called_block_length

    the N90 of the phased block length in the callset.

    l50_called

    the L50 of the phased block length in the callset.

    mean_truth_block_length

    the mean phased block length in the truth.

    median_truth_block_length

    the median phased block length in the truth.

    stddev_truth_block_length

    the standard deviation of the phased block length in the truth.

    n50_truth_block_length

    the N50 of the phased block length in the truth.

    n90_truth_block_length

    the N90 of the phased block length in the callset.

    l50_truth

    the L50 of the phased block length in the callset.

  3. sealed trait BlockInfo extends AnyRef
  4. class HapCutToVcf extends FgBioTool with LazyLogging
    Annotations
    @ClpAnnotation()
  5. trait HeaderLines extends AnyRef
  6. class JointVariantContextIterator extends Iterator[Seq[Option[VariantContext]]]

    Iterates over multiple variant context iterators such that we return a list of contexts for the union of sites across the iterators.

    Iterates over multiple variant context iterators such that we return a list of contexts for the union of sites across the iterators. If samples is given, we subset each variant context to just that sample.

  7. class MakeMixtureVcf extends FgBioTool with LazyLogging
    Annotations
    @ClpAnnotation()
  8. class MakeTwoSampleMixtureVcf extends FgBioTool

    Creates a VCF by mixing two germline samples at a given proportion.

    Creates a VCF by mixing two germline samples at a given proportion.

    Annotations
    @ClpAnnotation()
  9. case class PhaseBlock extends GenomicSpan with Product with Serializable
  10. case class PhaseBlockLengthMetric (dataset: String, length: Long = 0, count: Long = 0) extends Metric with Product with Serializable

    Provides the number of phased blocks of a given length.

    Provides the number of phased blocks of a given length.

    dataset

    the name of the dataset (ex. truth or call)

    length

    the length of the phased block

    count

    the number of phased blocks of the given length.

  11. class VariantMask extends AnyRef

    Simple mask that loads variants one reference sequence at a time and creates a compact representation allowing for rapid querying of whether or not positions are overlapped by one or more variants.

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