Curating Individual Information

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 Adding Variant Information 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.