Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

08:00 EDT 16th March 2017 | BioPortfolio

Summary of "Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar."

Data sharing through ClinVar offers a unique opportunity to identify interpretation differences between laboratories. As part of a ClinGen initiative, four clinical laboratories (Ambry, GeneDx, Partners Healthcare Laboratory for Molecular Medicine, and University of Chicago Genetic Services Laboratory) collaborated to identify the basis of interpretation differences and to investigate if data sharing and reassessment resolve interpretation differences by analyzing a subset of variants.


Journal Details

This article was published in the following journal.

Name: Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366


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