New Genetics Research Has Been Reported by Researchers at Acibadem University (Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center).

A recent study conducted at Acibadem University's Maslak Hospital in Istanbul, Turkey, explored the use of whole-genome sequencing (WGS) as a diagnostic tool for pediatric patients with undiagnosed conditions. The study found that WGS had a high diagnostic yield of 61%, especially when combined with the expertise of a clinical geneticist. The research suggests that WGS should be considered as a first-tier testing approach for infants and children with rare diseases, potentially shortening the time it takes to reach a diagnosis. The study highlights the importance of deep phenotyping and reverse phenotyping in improving diagnostic outcomes. [Extracted from the article]

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