ClinGen Actionability Working 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 Working 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

The Actionability Curation Interface (ACI) is a web-based curation portal developed to streamline the ClinGen Actionability WG curation process in both adult and pediatric contexts, which includes searching the literature for evidence, documenting the search process and references, performing an early rule out survey to determine if the topic is actionable, and abstracting data into a structured format. ACI also allows application of semi-quantitative scoring metric by experts, generation of summary reports, and dissemination of these reports in both human and machine readable formats.

Public AWG Reports

Publicly available AWG generated reports with scores for outcome/interventions for adult & pediatric subjects can be found here:

Reports

Actionability Curation Interface (Login Required)

The user interface to curate genetic disorders in both adult and pediatric contexts and score outcome/interventions pairs can be found here:

ACI


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