ARCHETYPE Phenopacket VcfAllele (openEHR-EHR-CLUSTER.pp_vcfallele.v0)

ARCHETYPE IDopenEHR-EHR-CLUSTER.pp_vcfallele.v0
ConceptPhenopacket VcfAllele
Description
UseIn the Phenopacket format, it is expected that one VcfAllele message described a single allele (in contrast to the actual VCF format that allows multiple alleles at the same position to be reported on the same line; to report these in Phenopacket format, two variant messages would be required). For structural variation the INFO field should contain the relevant information . In general, the info field should only be used to report structural variants and it is not expected that the Phenopacket will report the contents of the info field for single nucleotide and other small variants.
PurposeThis element is used to describe variants using the Variant Call Format, which is in near universal use for exome, genome, and other Next-Generation-Sequencing-based variant calling. It is an appropriate option to use for variants reported according to their chromosomal location as derived from a VCF file.
References
Copyright© openEHR Foundation
AuthorsAuthor name: Heather Leslie
Organisation: Atomica Informatics
Email: heather.leslie@atomicainformatics.com
Date originally authored: 2019-09-25
Other Details LanguageAuthor name: Heather Leslie
Organisation: Atomica Informatics
Email: heather.leslie@atomicainformatics.com
Date originally authored: 2019-09-25
OtherDetails Language Independent{licence=This work is licensed under the Creative Commons Attribution-ShareAlike 3.0 License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/3.0/., custodian_organisation=openEHR Foundation, original_namespace=org.openehr, original_publisher=openEHR Foundation, custodian_namespace=org.openehr, MD5-CAM-1.0.1=9CF3ECE7821FA2607BF16DE9F4CCCDC3, build_uid=e7f2e66d-30bb-41e1-8c33-6aff5f23d5a6, revision=0.0.1-alpha}
Keywords
Lifecyclein_development
UID6fd9726e-6226-4261-820e-26387d707b70
Language useden
Citeable Identifier1013.1.4152
Revision Number0.0.1-alpha
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