Evidence Collection: Genetic Evidence

Case-level genetic evidence can be entered for:

A group -- when there are many probands with similar characteristics in a single paper.

A family -- when you want to document specifics about multiple family members OR if you want to score segregation information.

An individual -- when you want to report a single proband.

These categories are not mutually exclusive, i.e. an individual can be part of a family or a group.

A single publication can be the source of multiple types of evidence. Variant evidence can only be scored on an individual. For example, you could start with a group as an easy way to document phenotype information shared by all individuals in the group, but you would need to further document each individual to be able to score variant evidence.

Case-Control genetic evidence can be added when statistical analysis is used to evaluate enrichment of variants in cases compared to controls.