New data from >143,000 patients support universal CNV testing

According to a study we recently published in Genetics in Medicine, intragenic copy number variants (CNVs; deletions/duplications) are a substantial proportion of clinically important variants reported in genetic testing across diverse clinical specialties. CNVs explain a substantial number of molecular diagnoses in hereditary disease Invitae tested over 1,000 genes across 143,000 patients and found that…

Read More