PROTECT-CHILD Pediatric Transplant Data Implementation Guide
0.1.0-ci-build -
PROTECT-CHILD Pediatric Transplant Data Implementation Guide
0.1.0-ci-build - ci-build
PROTECT-CHILD Pediatric Transplant Data Implementation Guide
0.1.0-ci-build - ci-build
PROTECT-CHILD Pediatric Transplant Data Implementation Guide, published by Protect Child. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/protect-child/ and changes regularly. See the Directory of published versions
Profile: Genomic Test
Reference Genome ID relationship: Basic GRCh38
Genomic Test Name: ExomeSeq v1
Genomic Test Version: 1.2.3
Sequencing device: Illumina NovaSeq 6000
Target capture: Exome capture kit XYZ v5
Read type: Paired-end
Read length: 150
Mean target coverage: 120.5
Per target base cover x100: 95.3
Alignment tools: BWA-MEM 0.7.17
Variant calling tools: GATK HaplotypeCaller 4.2.0
Chromosome coordinate: GRCh38 (1-based, inclusive)
Annotation tools: VEP 104
Annotation databases: gnomAD v3.1, ClinVar 2025-01, dbNSFP 4.3
identifier: https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/genomic-test-id/GT0001
code: Exome sequencing