MendelianViolationMetrics

Metrics

Category Metrics


Overview

Describes the type and number of mendelian violations found within a Trio.

This table summarizes the values that are specific to this metric.

Metric Summary
FAMILY_ID
The family ID assigned to the trio for which these metrics are calculated.
MOTHER
The ID of the mother within the trio.
FATHER
The ID of the father within the trio.
OFFSPRING
The ID of the offspring within the trio.
OFFSPRING_SEX
The sex of the offspring.
NUM_VARIANT_SITES
The number of biallelic, SNP sites at which all relevant samples exceeded the minimum genotype quality and depth and at least one of the samples was variant.
NUM_DIPLOID_DENOVO
The number of diploid sites at which a potential de-novo mutation was observed (i.e. both parents are hom-ref, offspring is not hom-ref.
NUM_HOMVAR_HOMVAR_HET
The number of sites at which both parents are homozygous for a non-reference allele and the offspring is heterozygous.
NUM_HOMREF_HOMVAR_HOM
The number of sites at which the one parent is homozygous reference, the other homozygous variant and the offspring is homozygous.
NUM_HOM_HET_HOM
The number of sites at which one parent is homozygous, the other is heterozygous and the offspring is the alternative homozygote.
NUM_HAPLOID_DENOVO
The number of sites at which the offspring is haploid, the parent is homozygous reference and the offspring is non-reference.
NUM_HAPLOID_OTHER
The number of sites at which the offspring is haploid and exhibits a reference allele that is not present in the parent.
NUM_OTHER
The number of otherwise unclassified events.
TOTAL_MENDELIAN_VIOLATIONS
The total of all mendelian violations observed.

Return to top


See also General Documentation | Tool Docs Index Tool Documentation Index | Support Forum

GATK version 4.6.2.0 built at Sun, 13 Apr 2025 13:21:43 -0400.