The Alzforum Mutations database has upped its game. This repository includes rap sheets on more than 500 variants in the three autosomal-dominant Alzheimer’s disease genes amyloid precursor protein ...
Copy number variant (CNV) analysis has been part of clinical diagnostics for almost two decades. With the evolution of genomic technologies for CNV detection, we have learned that CNVs can range in ...
SAN FRANCISCO--(BUSINESS WIRE)--Invitae Corporation (NYSE:NVTA), a genetic information company, today presented an important study at the 2016 American College of Medical Genetics and Genomics (ACMG) ...