The Case info tab includes the following information:
Case ID—a unique identifier assigned to each case by Emedgene, formatted as EMGXXXXXXXXX
Case type—the type of analysis performed:
Sample type—the format of the sample files used in the case:
FASTQ: *.fastq.gz, *.fq.gz, *.bam, *.cram.
Project VCF: *.pvcf, *.vcf, *.vcf.gz, *.pvcf.gz
VCF: *.vcf, *.vcf.gz, *.targeted.json, *.gt_sample_summary.json
Gene list—defines whether gene list was used during analysis and how it was applied:
All genes—AI Shortlist was neither confined to nor prioritized a specific gene list
Virtual panel (In silico panel)—AI Shortlist was limited to only the genes in the gene list
Boosted gene list—AI Shortlist analyzed variants in all genes, but variants in the gene list were given higher priority
Analysis type:
If field is not present—carrier analysis was not performed
Carrier—carrier analysis was performed for the selected gene list
Human reference—the genome reference used during case analysis
Ordered by—the user who created the case and the case creation date
Signed by—the user who finalized the case
Related cases—the Case IDs of other cases that share one or more samples with the selected case
Due Date—the user-defined deadline for finalizing the case. To enter or edit the Due Date, click the calendar icon in the Due Date section
Participants—Users involved in the case, whether in submission, analysis, finalization, or those subscribed to updates. To receive email notifications, click the Subscribe icon. To unsubscribe, hover over your avatar and click the X icon
Patient Information—basic demographic details:
Sex. Specified by the user
Age. Automatically calculated in years based on the provided date of birth
Clinical Information:
Proband phenotypes—HPO terms used to describe clinical findings in the proband
Suspected disease—if provided, includes the suspected condition, penetrance (%), and severity (mild, moderate, severe, or profound)
Maternal and Paternal ethnicity—ethnic background of the proband’s parents
Parental consanguinity—indicates whether the parents are related by blood
Report secondary findings—specifies whether secondary findings analysis was requested
Clinical note—free-text notes provided at the time of launching the analysis
Additional case information can be added using custom fields, either via the API or by including extra columns in your CSV during batch case creation.
This allows you to extend the case details panel with project-specific data.
To enable this feature or learn more, please contact [email protected].
