Towards an evidence-based process for the clinical interpretation of copy number variation.

ABSTRACT: The evidence-based review (EBR) process has been widely used to develop standards for medical decision-making and to explore complex clinical questions. This approach can be applied to genetic tests, such as chromosomal microarrays, in order to assist in the clinical interpretation of certain copy number variants (CNVs), particularly those that are rare, and guide array design for optimal clinical utility. To address these issues, the International Standards for Cytogenomic Arrays Consortium has established an EBR Work Group charged with building a framework to systematically assess the potential clinical relevance of CNVs throughout the genome. This group has developed a rating system enumerating the evidence supporting or refuting dosage sensitivity for individual genes and regions that

SUBMITTER: Riggs ER 

PROVIDER: S-EPMC5008023 | biostudies-literature | 2012 May

REPOSITORIES: biostudies-literature