avro.gel_participant_6_2_0.CommonRequest.avdl Maven / Gradle / Ivy
@namespace("org.gel.models.report.avro")
/**
This protocol defines the Commons for GEL models
*/
protocol CommonRequest {
/*
Types of files:
* `BAM`: alignment
* `gVCF`: genomic VCF for variants
* `VCF_small`: VCF file for SNV and indel
* `VCF_somatic_small`: VCF file for somatic SNV and indel
* `VCF_CNV`: VCF file for copy number variants
* `VCF_somatic_CNV`: VCF file somatic for copy number variants
* `VCF_SV`: VCF file for structural variants only
* `VCF_somatic_SV`: VCF file for somatic structural variants only
* `VCF_SV_CNV`: VCF file for CNV and SVs
* `SVG`: an SVG for example of a pedigree
* `ANN`: a Json File for the annotation file from openCBschema/IDLs/variantAnnotation.avdl
* `BigWig`: a bigwig file with the genome coverage
* `MD5Sum`: a MD5Sum file
* `ROH`: a BED file with Regions of homozygosity
* `OTHER`: other unspecified file type
* `PARTITION`: Canvas output of coverage in high density areas
* `VARIANT_FREQUENCIES`: b-allele frequencies
* `COVERAGE`: whole genome coverage metrics in JSON format
**/
enum FileType {
BAM,
gVCF,
VCF_small,
VCF_somatic_small,
VCF_CNV,
VCF_somatic_CNV,
VCF_SV,
VCF_somatic_SV,
VCF_SV_CNV,
SVG,
ANN,
BigWig,
MD5Sum,
ROH,
OTHER,
PARTITION,
VARIANT_FREQUENCIES,
COVERAGE
}
/**
This defines a file
This record is uniquely defined by the sample identfier and an URI
Currently sample identifier can be a single string or a list of strings if multiple samples are associated with the same file
**/
record File {
/**
Unique identifier(s) of the sample. For example in a multisample vcf this would have an array of all the sample identifiers
*/
union {null, array} sampleId;
/**
URI path of the file
*/
string uriFile;
/**
The type of the file
*/
FileType fileType;
/**
The MD5 checksum
*/
union {null, string} md5Sum;
}
/**
Family history for secondary findings.
Arrays of strings describing discrete family history phenotypes.
Usually: `EndocrineTumours`, `colorectal`, `BreastOvarian` and `HDOrStroke` but can be others
*/
record OtherFamilyHistory {
/**
Relevant Maternal family history
*/
union {null, array} maternalFamilyHistory;
/**
Relevant Maternal family history
*/
union {null, array} paternalFamilyHistory;
}
/**
The Genomics England program
*/
enum Program {
cancer,
rare_disease
}
/**
Some flags relevant to the interpretation of a case
*/
enum InterpretationFlags {
mixed_chemistries,
mixedLab_preparation,
low_tumour_purity,
uniparental_isodisomy,
uniparental_heterodisomy,
unusual_karyotype,
high_cnv_count,
high_estimate_human_contamination_fraction,
mixed_recruiting_gmc,
suspected_mosaicism,
low_quality_sample,
ffpe_tumour_sample,
ff_nano_tumour_sample,
missing_values_for_proband_in_reported_variant,
reissued,
supplementary_report_errors,
internal_use_only,
high_priority,
suspected_increased_number_of_false_positive_heterozygous_loss_calls,
suspected_poor_quality_cnv_calls,
cnv_calls_assumed_xx_karyo,
cnv_calls_assumed_xy_karyo,
other
}
/**
A given interpretation flag together with an optional description
*/
record InterpretationFlag{
/**
The interpretation flag
*/
InterpretationFlags interpretationFlag;
/**
The description for the flag
*/
union {null, string} additionalDescription;
}
/**
Interpretation flags at the participant level
*/
record ParticipantInterpretationFlags{
/**
The interpretation flag
*/
InterpretationFlags interpretationFlag;
/**
The description for the flag
*/
union {null, string} additionalDescription;
/**
Sample Id fron which this flag was reported
*/
string SampleId;
/**
Participant Id as appeared in the pedigree
*/
union {null, string} participantId;
}
}
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