Sequencing of the exome the protein-encoding parts of all the genes is beginning to dominate the genetics journals as well as headlines, thanks to its ability to diagnose the formerly undiagnosable.
Genetic screening by exome sequencing identified familial hypercholesterolemia in a cohort where most FH carriers were newly diagnosed.
"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 ...
Please provide your email address to receive an email when new articles are posted on . More than half of individuals appeared unaware they carried predisposition genes. Nearly 40% of carriers would ...
Immunotherapies, such as immune checkpoint inhibitors, have transformed the treatment of advanced stage cancers. Unlike chemotherapies that kill cancer cells, these drugs help the body's immune system ...
HOUSTON, June 26, 2025 (GLOBE NEWSWIRE) -- Baylor Genetics, a leading clinical diagnostic laboratory at the forefront of genetic testing, today announced its support for the American Academy of ...
Genetic testing has the potential to identify infants and children with autism potentially years earlier than clinical assessments, improving response to therapies and long-term outcomes. Sema4 ...
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 ...
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