Release 5 Preview #3

This page is part of the FHIR Specification (v4.5.0: R5 Preview #3). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R4B R4 R3

Sequence-example-fda-vcfeval

Clinical Genomics Work Group

Maturity Level: N/A

Standards Status: Informative

Compartments: Patient

This is the narrative for the resource. See also the XML, JSON or Turtle format. This example conforms to the profile MolecularSequence.

Generated Narrative

id: fda-vcfeval-comparison

coordinateSystem: 1

patient: Generated Summary: id: example; Medical record number: 12345 (USUAL); active; Peter James Chalmers (OFFICIAL), Jim , Peter James Windsor (MAIDEN); -unknown-(HOME), ph: (03) 5555 6473(WORK), ph: (03) 3410 5613(MOBILE), ph: (03) 5555 8834(OLD); gender: male; birthDate: 1974-12-25;

ReferenceSeqs

-

ReferenceSeqId

Strand

WindowStart

WindowEnd

*

NC_000001.11

watson

10453

101770080

Variants

-

Start

End

ObservedAllele

ReferenceAllele

*

13116

13117

T

G

quality
type: indel
standardSequence: file-BkZxBZ00bpJVk2q6x43b1YBx
start: 10453
end: 101770080
method: Vcfeval + Hap.py Comparison
truthTP: 7749
truthFN: 2554
queryFP: 10670
gtFP: 2186
precision: 0.428005
recall: 0.752111

quality
type: snp
standardSequence: file-BkZxBZ00bpJVk2q6x43b1YBx
start: 10453
end: 101770080
method: Vcfeval + Hap.py Comparison
truthTP: 92106
truthFN: 1247
queryFP: 21744
gtFP: 493
precision: 0.808602
recall: 0.986642

Repositories

-

Type

Url

Name

*

login

https://precision.fda.gov/jobs/job-ByxYPx809jFVy21KJG74Jg3Y

FDA

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.