Right now, we're using a text-based Categorical Variant (no VRS Variation used). Ideally, we would like to move towards using VRS objects within the Categorical Variant
However, this would mean adding additional dependencies for VRS-Python Translator:
- UTA - Postgres DB
- SeqRepo - Sqlite DB + FASTA files
@susannasiebert @acoffman For ClinVar submissions via ClinVar-This, we would like to accept VRS objects and try to avoid the text-based Categorical Variants. I've switched this on the NCH side, but haven't gotten to the CIViC side yet. I'm not sure how this would work with your workflow - if these services would be spun up on the CIViC side or if you would be okay hitting a REST API where the versions of the data would be managed by the NCH team.
In MetaKB, we are doing this VRS translation, but I think moving that logic over here would be nice.
For example, this would look something like:
{
"id": "civic.mpid:33",
"type": "CategoricalVariant",
"name": "EGFR L858R",
"members": [
{
"id": "ga4gh:VA.pM_eD8ha-bnAu6wJOoQTtHYIvEShSN51",
"type": "Allele",
"name": "7-55259515-T-G",
"location": {
"id": "ga4gh:SL.7g6PIIHJ_QkKe_dRvkuCe8UtZCmPxo5B",
"type": "SequenceLocation",
"sequenceReference": {
"type": "SequenceReference",
"refgetAccession": "SQ.F-LrLMe1SRpfUZHkQmvkVKFEGaoDeHul"
},
"start": 55191821,
"end": 55191822,
"sequence": "T"
},
"state": {
"type": "LiteralSequenceExpression",
"sequence": "G"
}
},
{
"id": "ga4gh:VA.gV7_dnvF8SQSeUdvgDFhU65zK_csc6VE",
"type": "Allele",
"name": "NM_005228.4:c.2573T>G",
"expressions": [
{
"syntax": "hgvs.c",
"value": "NM_005228.4:c.2573T>G"
}
],
"location": {
"id": "ga4gh:SL.LREsUiEYvOrRhwXW1rG72kXFPegvkNzI",
"type": "SequenceLocation",
"sequenceReference": {
"type": "SequenceReference",
"refgetAccession": "SQ.d_QsP29RWJi6bac7GOC9cJ9AO7s_HUMN"
},
"start": 2833,
"end": 2834,
"sequence": "T"
},
"state": {
"type": "LiteralSequenceExpression",
"sequence": "G"
}
}
],
"constraints": [
{
"type": "DefiningAlleleConstraint",
"allele": {
"id": "ga4gh:VA.S41CcMJT2bcd8R4-qXZWH1PoHWNtG2PZ",
"type": "Allele",
"location": {
"id": "ga4gh:SL.v0_edynH98OIu-0QPVT5anCSOriAFSDQ",
"type": "SequenceLocation",
"sequenceReference": {
"type": "SequenceReference",
"refgetAccession": "SQ.vyo55F6mA6n2LgN4cagcdRzOuh38V4mE"
},
"start": 857,
"end": 858,
"sequence": "L"
},
"state": {
"type": "LiteralSequenceExpression",
"sequence": "R"
}
},
"relations": [
{
"primaryCoding": {
"system": "http://www.sequenceontology.org",
"code": "liftover_to"
}
},
{
"primaryCoding": {
"system": "http://www.sequenceontology.org",
"code": "translation_of"
}
}
]
}
]
}
Right now, we're using a text-based Categorical Variant (no VRS Variation used). Ideally, we would like to move towards using VRS objects within the Categorical Variant
However, this would mean adding additional dependencies for VRS-Python Translator:
@susannasiebert @acoffman For ClinVar submissions via ClinVar-This, we would like to accept VRS objects and try to avoid the text-based Categorical Variants. I've switched this on the NCH side, but haven't gotten to the CIViC side yet. I'm not sure how this would work with your workflow - if these services would be spun up on the CIViC side or if you would be okay hitting a REST API where the versions of the data would be managed by the NCH team.
In MetaKB, we are doing this VRS translation, but I think moving that logic over here would be nice.
For example, this would look something like:
{ "id": "civic.mpid:33", "type": "CategoricalVariant", "name": "EGFR L858R", "members": [ { "id": "ga4gh:VA.pM_eD8ha-bnAu6wJOoQTtHYIvEShSN51", "type": "Allele", "name": "7-55259515-T-G", "location": { "id": "ga4gh:SL.7g6PIIHJ_QkKe_dRvkuCe8UtZCmPxo5B", "type": "SequenceLocation", "sequenceReference": { "type": "SequenceReference", "refgetAccession": "SQ.F-LrLMe1SRpfUZHkQmvkVKFEGaoDeHul" }, "start": 55191821, "end": 55191822, "sequence": "T" }, "state": { "type": "LiteralSequenceExpression", "sequence": "G" } }, { "id": "ga4gh:VA.gV7_dnvF8SQSeUdvgDFhU65zK_csc6VE", "type": "Allele", "name": "NM_005228.4:c.2573T>G", "expressions": [ { "syntax": "hgvs.c", "value": "NM_005228.4:c.2573T>G" } ], "location": { "id": "ga4gh:SL.LREsUiEYvOrRhwXW1rG72kXFPegvkNzI", "type": "SequenceLocation", "sequenceReference": { "type": "SequenceReference", "refgetAccession": "SQ.d_QsP29RWJi6bac7GOC9cJ9AO7s_HUMN" }, "start": 2833, "end": 2834, "sequence": "T" }, "state": { "type": "LiteralSequenceExpression", "sequence": "G" } } ], "constraints": [ { "type": "DefiningAlleleConstraint", "allele": { "id": "ga4gh:VA.S41CcMJT2bcd8R4-qXZWH1PoHWNtG2PZ", "type": "Allele", "location": { "id": "ga4gh:SL.v0_edynH98OIu-0QPVT5anCSOriAFSDQ", "type": "SequenceLocation", "sequenceReference": { "type": "SequenceReference", "refgetAccession": "SQ.vyo55F6mA6n2LgN4cagcdRzOuh38V4mE" }, "start": 857, "end": 858, "sequence": "L" }, "state": { "type": "LiteralSequenceExpression", "sequence": "R" } }, "relations": [ { "primaryCoding": { "system": "http://www.sequenceontology.org", "code": "liftover_to" } }, { "primaryCoding": { "system": "http://www.sequenceontology.org", "code": "translation_of" } } ] } ] }