Case info

The Case info tab includes the following information:

Technical details

• Case ID—a unique identifier assigned to each case by Emedgene, formatted as EMGXXXXXXXXX
• Case type—the type of analysis performed:

  • Whole Genome
  • Exome
  • Custom Panel
  • Array
• 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

Operational data

• 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
• 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

Provided information

• 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
  • Sharing consent
  • Clinical note—free-text notes provided at the time of launching the analysis

Additional

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 [e-mail].