You will be provided a login for our secure online analysis portal, seqr. Each individual sequenced will have a phenotype record within seqr, and for each affected individual, it is required to be filled in by the collaborator before sequencing data can be loaded onto seqr.
We use the Human Phenotype Ontology (HPO), a standardized language, for collecting and analyzing phenotypic information for patients with genetic disorders. A minimum amount of phenotypic information is required for each participant. We will review your submission and may request that additional information be provided.
If you already have your own PhenoTips records for these individuals and would like to facilitate a .json file transfer, please let us know and our team will assist with this process.