Gene Curation

Visit the Gene-Disease Clinical Validity Curation page to find the most up-to-date information about our Framework, Standard Operating Orocedures (SOP), and Curation Summaries.

Goals: 

  1. Establish a framework for assessing the evidence necessary to determine if a gene causes a particular disease (clinical validity).
  2. Develop standards for gene curation, and define the types and amounts of evidence necessary to support an association between a gene and a particular disease.
  3. Provide guidance and specifications to the ClinGen application development team for the creation of an interface to support gene curation activities.
  4. Oversee ClinGen gene curation activities, and support the needs of the Clinical Domain Working Groups as they curate domain-specific gene-disease pairs.

Leadership

Jonathan Berg, MD, PhD

Christa Lese Martin, PhD, FACMG


Coordinators

Please contact a coordinator if you have questions.

Laura Milko, PhD
laura_milko@med.unc.edu

Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu


Membership

Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

Laura Milko, PhD
laura_milko@med.unc.edu

Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu