Rescue Evidence

Rescue evidence shows that the phenotype in humans (i.e. patients with the condition), non-human model organisms, cell culture models, or patient cells can be rescued.

Curation of rescue evidence is based on whether rescue of the phenotype was observed in a human, a non-human model organism, a cell culture model or patient cells; select the appropriate option from the pull-down menu:

The curation interface for all options has a number of required fields, shown with an asterisk next to the field. The required fields are:

• Experiment name is a free-text field; please choose a descriptive name for the experiment.

• Description of gene alteration is a free-text field that enables you to describe how the endogenous gene was altered in the experiment.

• Phenotype to rescue requires an entry in the Human Phenotype Ontology (HPO) ID or the free text field.

• Description of method used to rescue is a free-text field.

For the "Non-human model organism" option, the additional required field is:

• Non-human model organism presents a dropdown menu of non-human model organism options. New organisms can be added upon request; please email us at clingen-helpdesk@lists.stanford.edu.

For the "Cell culture model" option, the additional required field is:

• Cell culture model type/line requires an entry in either the Experimental Factor Ontology (EFO)/Cell Ontology (CL) ID or the free text field.

For the "Patient cells" option, the additional required field is:

• Patient cell type/line requires an entry in the Cell Ontology (CL) ID or the free text field.

Links to the Human Phenotype Ontology (HPO), Cell Ontology (CL) and the Experimental Factor Ontology (EFO) are provided to aid in searching for the correct ID.

Finally, select whether the experimental evidence should be scored, brought up for review by the GCEP, or contradicts the gene-disease association.