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12 | 12 | HL7V2 = { |
13 | 13 | "VARIANT_NAME": "504", |
14 | 14 | "DISCRETE_VARIANT": "505", |
| 15 | + # required - needed as 1, 2, 3, 4, X, Y, etc |
15 | 16 | "CHROMOSOME": "510", |
16 | 17 | "ALLELE_START": "511.1", |
17 | 18 | "ALLELE_END": "511.2", |
18 | 19 | "DNA_REGION": "513", |
| 20 | + # required |
19 | 21 | "GENE_STUDIED": "514", |
20 | 22 | "TRANSCRIPT_REFERENCE_SEQUENCE_ID": "516", |
| 23 | + # required |
21 | 24 | "DNA_CHANGE": "518", |
| 25 | + # required |
22 | 26 | "AMINO_ACID_CHANGE": "520", |
23 | 27 | "MOLECULAR_CONSEQUENCE": "521", |
24 | 28 | "PROTEIN_REFERENCE_SEQUENCE": "522", |
| 29 | + # required? - refseq for genomic change (ex: NC_000023.11) |
25 | 30 | "GENOMIC_REFERENCE_SEQUENCE_ID": "524", |
26 | 31 | # "AMPLIFICATION": "525", Not supporting in proof of concept - this is for CNVs and we are not handling those yet (only simply variants) |
27 | 32 | "REFERENCE_ALLELE": "526", |
28 | 33 | "OBSERVED_ALLELE": "527", |
| 34 | + # required |
29 | 35 | "GENOMIC_DNA_CHANGE": "528", |
30 | 36 | "CYTOGENETIC_LOCATION": "532", |
31 | 37 | "PENETRANCE": "534", |
|
37 | 43 | "STRUCTURAL_OUTER_END": "547.2", |
38 | 44 | "COPY_NUMBER": "550", |
39 | 45 | # "FUSED_GENES": "551", Not supported until Cat-VRS 2.0 |
| 46 | + # hardcoded to "detected" for now - this is sample specific / unsure where to get from VA-Spec |
| 47 | + # required |
| 48 | + "VARIANT_ASSESSMENT": "552", |
| 49 | + # required |
40 | 50 | "VARIANT_CLASSIFICATION": "553", |
41 | 51 | "INTERPRETATION": "554", |
42 | 52 | "MODE_OF_INHERITANCE": "560", |
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