Foundation Medicine, Inc., a global precision medicine company, today announced the launch of its Whole Genome Sequencing (WGS) Germline test for research use. This important portfolio expansion is ...

RNA sequencing has emerged as a powerful supplement to DNA sequencing for Mendelian disease diagnosis, but clinical ...

Functional Characterization of Variants of Unknown Significance of Fibroblast Growth Factor Receptors 1-4 and Comparison With AI Model–Based Prediction An economic model was developed to estimate the ...

Early detection and diagnosis of inherited conditions in newborns and infants can lead to more effective therapies and better health outcomes Early detection and diagnosis of inherited conditions in ...

A genomic test developed at UC San Francisco to rapidly detect almost any kind of pathogen – virus, bacteria, fungus or parasite – has proved successful after a decade of use. The test has the ...

A new national study, led by researchers at Tufts Medical Center in Boston, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying ...

A U.K. program—similar to one launched in New York last fall— will begin genome sequencing on 100,000 babies this year to figure out whether screening newborns for a wide range of conditions is ...

Researchers at Weill Cornell Medicine in New York City have developed a genome sequencing test that analyzes tumors and can guide treatment options for patients with cancer. The New York State ...

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 ...