We are pleased to announce that episignatures are now integrated into DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources), an interactive web-based database for the interpretation and sharing of genomic data.
Information on available episignatures can now be found on relevant gene pages and therapy tabs within DECIPHER, providing users with access to this information as part of the platform’s genomic variant interpretation resources.
Episignatures provide functional evidence that can support variant interpretation and disease classification. They may also assist in the evaluation of patients with suspected rare or neurodevelopmental disorders that remain unresolved following conventional testing approaches.
We are excited to see EpiSign integrated into DECIPHER, making information about the expanding number of available episignatures more accessible to the genetics community. This integration represents an important step in increasing the visibility and accessibility of episignature information within widely used genomic resources.
