A set of analyses performed to analyze and generate genomic data.

GenomicStudy
identifier
Identifiers for this genomic study
status
registered | available | cancelled | entered-in-error | unknown
type
The type of the study (e.g., Familial variant segregation, Functional variation detection, or Gene expression profiling)
subject
The primary subject of the genomic study
encounter
The healthcare event with which this genomics study is associated
startDate
When the genomic study was started
basedOn
Event resources that the genomic study is based on
referrer
Healthcare professional who requested or referred the genomic study
interpreter
Healthcare professionals who interpreted the genomic study
reason
Why the genomic study was performed
instantiatesCanonical
The defined protocol that describes the study
instantiatesUri
The URL pointing to an externally maintained protocol that describes the study
note
Comments related to the genomic study
description
Description of the genomic study
analysis
Genomic Analysis Event
identifier
Identifiers for the analysis event
methodType
Type of the methods used in the analysis (e.g., FISH, Karyotyping, MSI)
changeType
Type of the genomic changes studied in the analysis (e.g., DNA, RNA, or AA change)
genomeBuild
Genome build that is used in this analysis
instantiatesCanonical
The defined protocol that describes the analysis
instantiatesUri
The URL pointing to an externally maintained protocol that describes the analysis
title
Name of the analysis event (human friendly)
focus
What the genomic analysis is about, when it is not about the subject of record
specimen
The specimen used in the analysis event
date
The date of the analysis event
note
Any notes capture with the analysis event
protocolPerformed
The protocol that was performed for the analysis event
regionsStudied
The genomic regions to be studied in the analysis (BED file)
regionsCalled
Genomic regions actually called in the analysis event (BED file)
input
Inputs for the analysis event
file
File containing input data
type
Type of input data (e.g., BAM, CRAM, or FASTA)
generatedBy[x]
The analysis event or other GenomicStudy that generated this input file
output
Outputs for the analysis event
file
File containing output data
type
Type of output data (e.g., VCF, MAF, or BAM)
performer
Performer for the analysis event
actor
The organization, healthcare professional, or others who participated in performing this analysis
role
Role of the actor for this analysis
device
Devices used for the analysis (e.g., instruments, software), with settings and parameters
device
Device used for the analysis
function
Specific function for the device used for the analysis