Exome sequencing–based studies are emerging as a popular approach to test for association of rare coding variants with complex phenotypes. The promise of exome sequencing is grounded in theoretical ...

Massively parallel sequencing of the exomes of four individuals with Miller syndrome, combined with filtering to exclude benign and unrelated variants, has identified causative mutations in DHODH.

Management of mitochondrial-related heart disease relies on multidisciplinary care and symptom control, as targeted gene-editing therapies are limited.

Sequencing a patient's entire genome to discover the source of his or her disease is not routine, but geneticists are getting close. A case report shows how researchers can combine a simple blood test ...

As the development of biological experimental technology, especially gene-sequencing technology, both laboratory and clinical researchers realize that genome sequencing is the best way to analyze the ...

Deciphering the first complete sequence of the human genome in 2003 required a combined effort of scientists from 20 institutions and $3 billion of funding. Over the last decade, whole-exome ...

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Twist Bioscience Corporation (NASDAQ: TWST), a company enabling customers to succeed through its offering of high-quality synthetic DNA using its silicon ...

Study finds significantly lower rates of provider-initiated exome reanalysis among diverse racial, ethnic, and ancestral groups highlighting the importance of proactive reanalysis offerings like Ambry ...

GeneDx raised full year 2025 total revenue guidance to $425 million to $428 million. Exome and genome revenue guidance was increased to $358 million to $361 million, reflecting 53% to 55% growth for ...

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 ...