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. 2022 Mar 9;43(6):800–811. doi: 10.1002/humu.24354

Table 1.

Genomics4RD features available to users in accordance with their level of access

Access tier Features
Data depositor
  • View all participant records across the database
  • Access to aggregate variant store
  • Edit metadata for cohorts entered by the data depositor
  • Download raw and processed multiomic data for cohorts entered by the data depositor
  • Push functionality to PhenomeCentral for participants entered by the data depositor
  • Access to external one‐sided matchmaking platform
Open access user
  • View aggregate database information
    • o
      number of records
    • o
      number of diagnosed participants
    • o
      distribution of HPO terms
    • o
      list of flagged candidate genes
    • o
      list of unsolved recognizable disorders
    • o
      number of multiomic data sets
Registered access user
  • Access to external one‐sided matchmaking platform
Controlled access user
  • Download appropriate clinical information from participant records
  • Download raw and processed multiomic data for approved participants

Abbreviation: HPO, human phenotype ontology.