"Groups such as the American College of Medical Genetics and Genomics can use this study to help determine whether PKD1 and PKD2 should be considered in future recommendations for reporting 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 ...
Genetic screening by exome sequencing identified familial hypercholesterolemia in a cohort where most FH carriers were newly diagnosed.
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 ...
STAMFORD, Conn., Dec. 01, 2023 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today announced new data to be presented ...
Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly. This can lead to serious disorders that cause disease or even disability.
LONDON, June 8, 2017 /PRNewswire/ -- The European next-generation sequencing (NGS) services market is undergoing transformation propelled by rapid technological innovations. Decreasing cost, launch of ...
Baylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental Delays Provided by ...
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