Release 5 Draft Ballot

This page is part of the FHIR Specification (v4.6.0: R5 Draft Ballot). 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

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

type: dna

coordinateSystem: 1

patient: Generated Summary: Medical record number: 12345 (USUAL); active; Peter James Chalmers (OFFICIAL), Jim , Peter James Windsor (MAIDEN); , Phone: (03) 5555 6473, Phone: (03) 3410 5613, Phone: (03) 5555 8834; 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

Qualities

-

Type

StandardSequence

Start

End

Method

TruthTP

QueryTP

TruthFN

QueryFP

GtFP

Precision

Recall

FScore

*

snp

file-Bk50V4Q0qVb65P0v2VPbfYPZ

10453

101770080

Vcfeval + Hap.py Comparison

7749

7984

2554

10670

2186

0.428005

0.752111

0.545551

Repositories

-

Type

Url

Name

VariantsetId

*

login

https://precision.fda.gov/files/file-Bx37ZK009P4bX5g3qjkFZV38

FDA

file-Bx37ZK009P4bX5g3qjkFZV38

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.