Journal mondial des sciences de la vie et de la recherche biologique
Libre accès

Abstrait

Human Genetics 2016: Optimizing clinical understanding of genomic variants in autism and other disorders of development - E Robert Wassman - Lineagen Inc., USA

E Robert Wassman

Chromosomal microarray (CMA) is a standard first-tier diagnostic for autism spectrum disorders (ASD) and other neurodevelopmental conditions and is now complemented by whole exome sequencing (WES) to identify potentially pathogenic variants in over half of such cases today.