LogoLogo
  • Getting Started in the VCI and GCI
    • About the Curation Interfaces
    • Account Creation and Login
      • Registration
      • Affiliations
      • Logging In
    • General Navigation
  • VCI Help
    • About Variant Curation
    • Selecting a Variant
    • The Evidence View
    • Starting an Interpretation
      • Interpretation mode view
      • Associating a variant with disease, mode of inheritance and specification document
        • Disease association
        • Mode of inheritance
        • Specification documents
    • Evaluating Criteria
      • Adding Curated Evidence
      • Case/Segregation Data
        • Adding Evidence Details
      • Functional Data
      • The Audit Trail
    • The Evaluation Summary
      • Viewing an Evaluation Summary
        • Modifying a Classification
      • Saving an Evaluation Summary
        • Record Statuses
        • Saving as a Provisional Interpretation
        • Saving as an Approved Interpretation
      • Viewing and Printing Summaries
    • Publishing from the VCI
      • Publishing to the ERepo
      • Publishing to ClinVar
    • Variant Prioritization
      • VP Access
      • Searching
      • The Filter View
      • Filters
      • Columns
      • The VP Data Pipeline
      • Data Output
  • GCI Help
    • About Gene-Disease Clinical Validity Curation
    • Creating a Gene-Disease Record
      • Creating a Free-Text Disease Identifier
    • Curation Central
    • Adding PubMed Articles
      • GCI Preprint Policy
    • Adding ClinVar Submissions
    • Evidence Collection: Overview
    • Evidence Collection: Genetic Evidence
      • Curating Group Information
      • Curating Family Information
      • Curating Individual Information
      • Curating Case-Control Information
      • Curating Variant Information
    • Evidence Collection: Experimental Evidence
      • Biochemical Function Evidence
      • Protein Interactions Evidence
      • Expression Evidence
      • Functional Alteration Evidence
      • Model Systems Evidence
      • Rescue Evidence
    • Previewing Curated Evidence
    • Saving, Reviewing and Approving Classifications
      • Saving the Summary Classification
      • Moving a Gene-Disease Record to Provisional Status
      • Approving a Gene-Disease Record
    • Publishing an Approved Gene-Disease Record
      • Editing the Disease Term of a Published Gene-Disease Record
      • Editing and Re-publishing a Published Summary
    • Recuration
    • GCI API
  • External Tools
    • Ontologies in the VCI and GCI
    • MONDO Search Help
    • HPO Search Help
  • More Information
    • Frequently Asked Questions
    • ClinGen Resources
    • About Us
      • The Team
    • VCI Terms of Use, User Agreement
Powered by GitBook
On this page
Export as PDF
  1. GCI Help
  2. Evidence Collection: Genetic Evidence

Curating Individual Information

PreviousCurating Family InformationNextCurating Case-Control Information

Last updated 2 years ago

The top section of the curation interface shows the publication currently being curated.

All required fields (marked with a star) must be filled in before the curated record for an individual can be saved. The required fields are:

  • Individual Label is a free-text identifier assigned by the curator. It should be used to uniquely identify an individual described in a publication. Please use any identifiers that the authors use for the individual or family in the paper (e.g. MRX69 Individual III-2). Never use a real name. In addition, labels must be different across publications. If the same identifier, such as “Proband 1”, is used across several publications, the system considers this to be the same individual, which will affect scoring and website display. Please use different labels for probands, for example by adding the first author name followed by the identifier in the paper (i.e. “Wang Proband 1”). Note that there is a limit of 60 characters.

  • Is this Individual a proband is a dropdown menu that only allows a Yes/No selection. Answer “Yes” if you intend to count this person in your scoring.

  • Disease for Individual becomes a required field if the individual is a proband; usually select “Copy disease term from Gene-Disease Record.”

  • Sex

While not required, some fields are necessary to enable scoring. At minimum, you must enter a variant and provide the required information there (see the section).

The following section enables curation of the disease and phenotype(s) of the individual. If the individual is a proband, a disease entry is required, usually by selecting “Copy disease term from Gene-Disease Record.” All other fields are optional.

The following section enables curation of the demographics of the individual. The only required field is "Sex". The dropdown menu contains extensive options, including "unknown" if no information is provided in the publication. Additional information about the individual should be entered if it is given in the publication.

Remember to click the "Save" button at the bottom of the page. If you click "Cancel" or navigate away from the page without saving, all entered data will be lost.

Adding Variant Information