MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions
German
Profiles: MII PR MolGen Genomic Study Analysis, https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1
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 ( Krankenaktennummer (use: usual, ))