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. |
GATK version 4.6.0.0-33-gdffedfb built at Wed, 23 Oct 2024 21:44:48 -0400.
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