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Additional genotype annotation fields
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heuermh committed Nov 4, 2016
1 parent 4cacfa8 commit b37f21a
Showing 1 changed file with 38 additions and 0 deletions.
38 changes: 38 additions & 0 deletions src/main/resources/avro/bdg.avdl
Original file line number Diff line number Diff line change
Expand Up @@ -795,6 +795,13 @@ record Genotype {
*/
union { boolean, null } phased = false;

/**
Phase set identifier, if any. Phased genotypes on the same contig with the same phaseSetId
are in the same phased set. All phased genotypes that do not have a phaseSetId are assumed to
belong to the same phased set. VCF genotype field reserved key PS.
*/
union { null, string } phaseSetId = null;

/**
True if filters were applied for this variant. VCF genotype field reserved key FT any
value other than the missing value.
Expand Down Expand Up @@ -822,6 +829,37 @@ record GenotypeAnnotation {
*/
union { null, Genotype } genotype = null;

/**
Conditional genotype quality, encoded as a phred quality −10log10 p(genotype call is wrong
conditioned on the site being variant). VCF genotype field reserved key GQ.
*/
union { null, int } genotypeQuality = null;

/**
Haplotype quality, encoded as two phred qualities. VCF genotype field reserved key HQ.
*/
array<int> haplotypeQuality = [];

/**
Phred-scaled probability that alleles are ordered incorrectly, against all other members in
the same phase set. VCF genotype field reserved key PQ.
*/
union { null, int } phaseSetQuality = null;

/**
Root Mean Square (RMS) of the mapping quality of reads for this genotype. VCF genotype field
reserved key MQ.
*/
union { null, int } rmsMappingQuality = null;

/**
Per-sample component statistics which comprise the Fisher's Exact Test to detect strand bias.
If set, the array should contain the number of reads that support the reference allele on the
forward strand, the reference allele on the reverse strand, the alternate allele on the forward
strand, and the alternate allele on the reverse strand, in that order. VCF genotype field key SB.
*/
array<int> strandBias = [];

/**
Additional genotype attributes that do not fit into the standard fields above.
The values are stored as strings, even for flag, integer, and float types.
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