{ "resourceType": "Sequence", "id": "fda-example", "text": { "status": "generated", "div": "

Generated Narrative with Details

id: fda-example

type: dna

coordinateSystem: 1

patient: Patient/example

ReferenceSeqs

-ReferenceSeqIdStrandWindowStartWindowEnd
*NC_000001.11 (Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NC_000001.11' = 'NC_000001.11)110453101770080

Variants

-StartEndObservedAlleleReferenceAllele
*1311613117TG

Qualities

-TypeStandardSequenceStartEndMethodTruthTPQueryTPTruthFNQueryFPGtFPPrecisionRecallFScore
*snpfile-Bk50V4Q0qVb65P0v2VPbfYPZ (Details : {https://precision.fda.gov/files/ code 'file-Bk50V4Q0qVb65P0v2VPbfYPZ' = 'file-Bk50V4Q0qVb65P0v2VPbfYPZ)10453101770080Vcfeval + Hap.py Comparison (Details : {https://precision.fda.gov/jobs/ code 'job-ByxYPx809jFVy21KJG74Jg3Y' = 'job-ByxYPx809jFVy21KJG74Jg3Y)7749798425541067021860.4280050.7521110.545551

Repositories

-TypeUrlNameVariantsetId
*loginhttps://precision.fda.gov/files/file-Bx37ZK009P4bX5g3qjkFZV38FDAfile-Bx37ZK009P4bX5g3qjkFZV38
" }, "type": "dna", "coordinateSystem": 1, "patient": { "reference": "Patient/example" }, "referenceSeq": { "referenceSeqId": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000001.11" } ] }, "strand": 1, "windowStart": 10453, "windowEnd": 101770080 }, "variant": [ { "start": 13116, "end": 13117, "observedAllele": "T", "referenceAllele": "G" } ], "quality": [ { "type": "snp", "standardSequence": { "coding": [ { "system": "https://precision.fda.gov/files/", "code": "file-Bk50V4Q0qVb65P0v2VPbfYPZ" } ] }, "start": 10453, "end": 101770080, "method": { "coding": [ { "system": "https://precision.fda.gov/jobs/", "code": "job-ByxYPx809jFVy21KJG74Jg3Y" } ], "text": "Vcfeval + Hap.py Comparison" }, "truthTP": 7749, "queryTP": 7984, "truthFN": 2554, "queryFP": 10670, "gtFP": 2186, "precision": 0.428005, "recall": 0.752111, "fScore": 0.545551 } ], "repository": [ { "type": "login", "url": "https://precision.fda.gov/files/file-Bx37ZK009P4bX5g3qjkFZV38", "name": "FDA", "variantsetId": "file-Bx37ZK009P4bX5g3qjkFZV38" } ] }