Bioinformatics
Published June 24, 2020 | Version 1.0
Dataset Open

384 Phenopackets

Creators

  • 1. The Jackson Laboratory

Contributors

Data collector:

Data curator:

  • 1. Dept. of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA
  • 2. The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA

Description

GA4GH Phenopackets (https://github.com/phenopackets/phenopacket-schema) representing 384 individuals described in published case reports with Human Phenotype Ontology terms and causal genetic variants.

Files

phenopackets.zip

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