4.10. De novo variant candidates

In cases where variants from both parents are available with an index case, CGAR supports simple de novo variant analysis by identifying heterozygous variants from index case that are not found in both parents.

_images/T8.Denovo.png

On the side menu, index case (if different from current one) can be selected from Report for: dropdown list. Parental samples are specified by Paternal sample and Maternal sample, respectively.

On the resulting table, if the de novo variant candidate is also found in denovo-db, a collection of germline de novo variants identified in human, the phenotype from denovo-db (Phenotype, the phenotype for the original family study) is also shown. Additionally, CGAR shows phenotype and variant category from HGMD® (requires license) (columns HGMD phenotype and HGMD class variant).