A new database housed at the US National Center for Biotechnology Information aims to help physicians determine the clinical significance of copy-number variations, reports Nature Medicine's Spoonful of Medicine blog. The International Standards for Cytogenomic Arrays database "has been established to leverage data from the thousands of patients with developmental disabilities, congenital anomalies, and other phenotypes being tested through ISCA member laboratories," write Emory University School of Medicine's Christa Martin and her colleagues in Clinical Genetics. Martin et al. also discuss a rating system, on a scale of zero to three, that evaluates the evidence for clinical significance. "Before now, there was not a formal process to rate CNV pathogenicity," Martin tells the Spoonful of Medicine. "It made analyzing [CNV microarray] data very confusing for doctors. This database begins to fix that problem."
All the CNVs
Apr 18, 2012