Systemic sclerosis (SSc) is a severe autoimmune disease with complex genetic causes. Some genetic contributors have been identified, but others remain unknown, which has impeded development of ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

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 ...

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 ...

The optimising EXome PREnatal Sequencing Services (EXPRESS) policy report outlines actions to strengthen clinical implementation of, and further research on, prenatal exome sequencing services in the ...

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 ...