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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 hosted here provide interface to curate data by clingen actionability WG. The AWG generated data is accessible here and searchable through ClinGen resource page with other resources generated by ClinGen.

A beta release of documents generated by actionability working group is available here and structured data is available here.

Issue tracker for the core group is available here.

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.