Endocrinology Advisor

AHA Scientific Statement Links Mitochondrial Genetic Variants to CVD

The AHA recommended whole exome or whole genome sequencing as first-line diagnostic tools for mitochondrial diseases.
ascopubs.org

Concordance of somatic whole exome sequencing and germline genotyping of DPYD to screen for DPD deficiency.

NuGenA (Nurse Led Genetic Counselling and Awareness): A proof-of-concept to implementation of genetic counseling for HBOC in LMICs. Clinical features and occurrence of other cancers in patients with ...
Business Wire

GeneDx to Expand Access to Exome Testing for Pediatric Epilepsy Patients with New Partners

STAMFORD, Conn.--(BUSINESS WIRE)--GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced Biogen (Nasdaq: BIIB), Praxis Precision Medicines ...
Business Wire

GeneDx Integrates with Epic, Enabling Broad Adoption of Genome and Exome Sequencing for Health Systems to Inform Patient Diagnosis and Accelerate Treatment

GAITHERSBURG, Md.--(BUSINESS WIRE)--GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, announced today its launch on Aura, Epic’s specialty diagnostics ...
Science Daily

Largest-ever exome study offers blueprint for biomedical breakthroughs

Scientists have achieved a significant milestone generating a large collection of exome data, which include genes that code for proteins -- key to understanding health and disease. Mayo Clinic's ...
Nasdaq

GeneDx expands access to exome testing for pediatric epilepsy patients

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