ClinGen Actionability Work-group aims to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known. Goals of ClinGen Actionability Work Group:
Develop rigorous and standardized procedures for categorically defining “clinical actionability”; a concept that includes a known ability to intervene and thereby avert a poor outcome due to a previously unsuspected high risk of disease
Nominate genes and diseases to score for “clinical actionability”
Produce evidence-based reports and semi-quantitative metric scores using a standardized method for nominated gene disease pairs
Make these reports and actionability scores publicly available to aid broad efforts for prioritizing those human genes with the greatest relevance for clinical intervention.
Services available here provide interface to curate data by clingen actionability WG.
However, that API directly exposes the underlying storage system.
Development of a clearer and more useful replacement API is underway.
This site also maintains as Issue tracker for the actionability core group.
Services available here are collaborative efforts between ClinGen Actionability work-group and Informatics team of Baylor college of medicine. The engineering aspects of the development of this software application is lead by Sameer Paithankar.