The New York Center for Rare Diseases is performing a study to test how advanced genomic technologies can be used to diagnose genetic diseases in patients for whom standard testing has failed to provide answers.
With Partners at 
we are testing how long-read DNA and RNA sequencing combined with advanced phenotyping and innovative analytical approaches improve our ability to diagnose even the most complex patients.
We are performing an NIH-funded clinical trial to test how GenomeDiver enhances the phenotypic information provided to the clinical diagnostic laboratory in rare disease diagnostics.
