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examples added

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VarioML committed Dec 29, 2017
1 parent 3b77871 commit 38dc10b449ffde2cc9e4910017383ae58eaa23e7
Showing with 7,733 additions and 1 deletion.
  1. +192 −0 json/examples/lovd.json
  2. +2,943 −0 json/examples/lovd.json-schema
  3. +4,406 −0 json/examples/lovd.json-schema-html5
  4. +192 −1 json/examples/vreport.json
@@ -0,0 +1,192 @@
{
"sources": [
{
"name": "name of lab",
"contacts": [
{
"name": "name of submitter",
"email": "email@institute.org",
"db_xrefs": [
{
"accession": "12345",
"source": "lovd"
},
{
"accession": "aX7unp00nswXS7u",
"source": "lovd_auth_token"
}
]
}
]
}
],
"individuals": [
{
"id": "patient_ID",
"gender": {
"code": 2
},
"phenotypes": [
{
"accession": "0000118",
"source": "HPO",
"term": "Phenotypic abnormality"
}
],
"variants": [
{
"copy_count": 1.0,
"type": "DNA",
"genes": [
{
"accession": "IVD",
"source": "HGNC"
}
],
"ref_seq": {
"accession": "NC_000015.9",
"source": "genbank"
},
"name": {
"scheme": "HGVS",
"string": "g.40702997G>A"
},
"pathogenicities": [
{
"scope": "individual",
"term": "Pathogenic"
}
],
"variant_detection": {
"technique": "SEQ",
"template": "DNA"
},
"seq_changes": {
"variants": [
{
"type": "cDNA",
"ref_seq": {
"accession": "NM_002225.3",
"source": "genbank"
},
"name": {
"scheme": "HGVS",
"string": "c.465+1G>A"
},
"variant_detection": {
"technique": "RT-PCR",
"template": "RNA"
},
"seq_changes": {
"variants": [
{
"type": "RNA",
"name": {
"scheme": "HGVS",
"string": "r.296_465del"
},
"seq_changes": {
"variants": [
{
"type": "AA",
"name": {
"scheme": "HGVS",
"string": "p.Val99Alafs*5"
}
}
]
}
}
]
}
}
]
}
},
{
"copy_count": 1.0,
"type": "DNA",
"genes": [
{
"accession": "IVD",
"source": "HGNC"
}
],
"ref_seq": {
"accession": "NC_000015.9",
"source": "genbank"
},
"name": {
"scheme": "HGVS",
"string": "g.40699897G>A"
},
"pathogenicities": [
{
"scope": "individual",
"term": "Pathogenic"
}
],
"variant_detection": {
"technique": "SEQ",
"template": "DNA"
},
"seq_changes": {
"variants": [
{
"type": "cDNA",
"ref_seq": {
"accession": "NM_002225.3",
"source": "genbank"
},
"name": {
"scheme": "HGVS",
"string": "c.214G>A"
},
"seq_changes": {
"variants": [
{
"type": "RNA",
"name": {
"scheme": "HGVS",
"string": "r.214g>a"
},
"seq_changes": {
"variants": [
{
"type": "AA",
"name": {
"scheme": "HGVS",
"string": "p.Asp72Asn"
}
}
]
}
},
{
"type": "RNA",
"name": {
"scheme": "HGVS",
"string": "r.154_243del"
},
"seq_changes": {
"variants": [
{
"type": "AA",
"name": {
"scheme": "HGVS",
"string": "p.Leu52_Arg81del"
}
}
]
}
}
]
}
}
]
}
}
]
}
]
}
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