The advent of ultrahigh-throughput next-generation sequencing (NGS) offers an improved approach to endocrine molecular diagnostics. There are three basic paradigms in which this technology is usually ...
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., March 16, 2023 (GLOBE NEWSWIRE) -- GeneDx Holdings Corp. (GeneDx) (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, announced new ...
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 ...