A GenomicStudy is a set of analyses performed to analyze and generate genomic data. A GenomicStudy is a set of analyses performed to analyze and generate genomic data. If the element is present, it must have either a @value, an @id, or extensions Identifiers for this genomic study. The status of the genomic study. The type of the study, e.g., Familial variant segregation, Functional variation detection, or Gene expression profiling. The primary subject of the genomic study. The healthcare event with which this genomics study is associated. When the genomic study was started. Event resources that the genomic study is based on. Healthcare professional who requested or referred the genomic study. Healthcare professionals who interpreted the genomic study. Why the genomic study was performed. The defined protocol that describes the study. The URL pointing to an externally maintained protocol that describes the study. Comments related to the genomic study. Description of the genomic study. The details about a specific analysis that was performed in this GenomicStudy. A GenomicStudy is a set of analyses performed to analyze and generate genomic data. Identifiers for the analysis event. Type of the methods used in the analysis, e.g., Fluorescence in situ hybridization (FISH), Karyotyping, or Microsatellite instability testing (MSI). Type of the genomic changes studied in the analysis, e.g., DNA, RNA, or amino acid change. The reference genome build that is used in this analysis. The defined protocol that describes the analysis. The URL pointing to an externally maintained protocol that describes the analysis. Name of the analysis event (human friendly). The focus of a genomic analysis when it is not the patient of record representing something or someone associated with the patient such as a spouse, parent, child, or sibling. For example, in trio testing, the GenomicStudy.subject would be the child (proband) and the GenomicStudy.analysis.focus of a specific analysis would be the parent. The specimen used in the analysis event. The date of the analysis event. Any notes capture with the analysis event. The protocol that was performed for the analysis event. The genomic regions to be studied in the analysis (BED file). Genomic regions actually called in the analysis event (BED file). Inputs for the analysis event. Outputs for the analysis event. Performer for the analysis event. Devices used for the analysis (e.g., instruments, software), with settings and parameters. A GenomicStudy is a set of analyses performed to analyze and generate genomic data. File containing input data. Type of input data, e.g., BAM, CRAM, or FASTA. The analysis event or other GenomicStudy that generated this input file. A GenomicStudy is a set of analyses performed to analyze and generate genomic data. File containing output data. Type of output data, e.g., VCF, MAF, or BAM. A GenomicStudy is a set of analyses performed to analyze and generate genomic data. The organization, healthcare professional, or others who participated in performing this analysis. Role of the actor for this analysis. A GenomicStudy is a set of analyses performed to analyze and generate genomic data. Device used for the analysis. Specific function for the device used for the analysis. Registered Available Cancelled Entered in Error Unknown If the element is present, it must have either a @value, an @id, or extensions