EurekAlert!

New NIPT-based method reveals 33 pathogenic CNVs in the DMD gene

Frequency and phenotypic spectrum of the 64 pathogenic/likely pathogenic CNVs comparing with 19,775 patients from the LOVD. CNVs, copy number variants; P, pathogenic; LP, likely pathogenic; VUS, ...
Healio

Genetics-first approach encouraged in diagnosing primary immune regulatory disorders

Please provide your email address to receive an email when new articles are posted on . Flow cytometry and antibody counts might not identify all patients. Genetic databases are available, but they ...
EurekAlert!

BGI Genomics New NIPT Method Reveals Pathogenic CNVs in the DMD Gene (IMAGE)

Frequency and phenotypic spectrum of the 64 pathogenic/likely pathogenic CNVs comparing with 19,775 patients from the LOVD. CNVs, copy number variants; P, pathogenic; LP, likely pathogenic; VUS, ...
Healio

Findings allow for better risk assessment and personalized treatment for BRCA2 carriers

Please provide your email address to receive an email when new articles are posted on . Researchers assigned clinical classifications to thousands of BRCA2 variants of uncertain significance. Research ...
The Scientist

Advancing Cancer Genetic Testing to Improve Prevention and Patient Treatment

Marcy Richardson from Ambry Genetics discusses the importance of a new study that assessed the functional impact of thousands of BRCA2 variants, identifying those that may increase cancer risk. What ...