Tag Archive: sequencing

Feb 12 2019

Informatics Driven Clinical Genomics: Q&A With Mahdi Sarmady, PhD

Scientists are driving new discoveries about the role of genetic variation in specific human disorders at an exciting and unprecedented pace, and physicians are increasingly incorporating genetic tests into pediatric clinics as a diagnostic tool. But with high-throughput sequencing methods continuously yielding floods of new information, how can clinicians keep up with updated data for patients who have already received genetic test results?

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Oct 19 2018

In the News: Sepsis in Scientific American, Updating Genetic Tests, Prenatal Gene Editing, Nature Magazine, Type 1.5 Diabetes

Our breakthrough research at Children’s Hospital of Philadelphia Research Institute made headlines in both popular science media outlets and prominent scientific journals alike, from advances in detecting sepsis, to pioneering work in prenatal gene editing, to the future of genomic medicine. Read on to learn more about how our scientists stay at the cutting-edge of their fields by approaching pediatric medicine inventively, whether it’s by developing the most effective alerts in emergency medicine, modernizing genetic testing models to keep up with an accelerating pace of discovery, and beyond. 

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