MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht
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Example Procedure: WES Sequencing Analysis

English

Genomic Study Analysis Specimen: Specimen: identifier = https://www.medizininformatik-initiative.de/fhir/sid/specimen-ids#LIB-2024-001; type = Saliva specimen

Genomic Study Analysis Device

Genomic Study Analysis Method Type: Sequencing

Genomic Study Analysis Metrics

  • read-depth: 120 reads (Details: UCUM code1 = '1')
  • sequencing-coverage: 98.5 percent (Details: UCUM code% = '%')
  • metrics-description: High-quality sequencing run with mean coverage of 120X. 98.5% of target regions achieved >20X coverage. Q30 bases: 92%. Contamination estimate: <1%. Sample identity confirmed by SNP fingerprinting.

Genomic Study Analysis Regions

  • description: Whole Exome - Agilent SureSelect Human All Exon V7

status: Completed

category: Laboratory

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))