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h1: what is the clingen pathogenicity calculator?
p: The shift from genetic testing of individual genes to exome and genome sequencing has been accompanied by new challenges in genome interpretation. The American College of Medical Genetics and Genomics and the Association for Molecular Pathology have published Standards and Guidelines for the Interpretation of Sequence Variants. To enable wide application of these and related standards and the development of collective knowledge by the community, ClinGen Resource project has developed ClinGenKB and associated resources. One ClinGenKB resource is the ClinGen Pathogenicity Calculator that enables evaluation of pathogenicity according to the ACMG/ACP Guidelines. <br><br> The Calculator is currently being tested at a number of sites, including this site at the Innovation Center for Biomedical Sciences at the Lombardi Cancer Center at Georgetown University. The data at this and other participating sites only privately accessible at this time. We anticipate releasing a publicly accessible version of the Calculator and associated data sets in Summer/Fall 2015. To express your interest in participating, send us an email describing your project. <br> Contact Us
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