Technologies standards: Phenopackets

Is registered as an ISO standard

https://phenopacket-schema.readthedocs.io/en/latest/

jacobsen_ga4gh_2022

ladewig_ga4gh_2022

Connections to other standards

phenotype conversion tool : https://github.com/mrueda/convert-pheno

Mapping to OMOP

https://github.com/elixir-luxembourg/BH2021-beacon-2.x-omop

https://github.com/phenopackets/omop-exporter

https://docs.google.com/presentation/d/14xk2NpCtlOSbiPVp7RQrfWYMJTRB-tsuSZoyEejmENU/edit#slide=id.g134dd7d6c0a_0_1072

mapping for disease epidemics and analytics

Beacon

Work in progress to generate phenopackets from data housed in Beacon. Current working group is exploring this.

Progenetix have implemented an endpoint that can generate phenopackets as a response

VRS

Variant representation largely derived from the GA4GH VRS standard

References

Affiliations Contributors