Rapid Whole Genome Sequencing: It Is Feasible! When Can We Implement It?
Sign Up to like & getrecommendations! Published in 2024 at "Epilepsy Currents"
DOI: 10.1177/15357597241237349
Abstract: Evaluation of the Feasibility, Diagnostic Yield, and Clinical Utility of Rapid Genome Sequencing in Infantile Epilepsy (Gene-STEPS): An International, Multicentre, Pilot Cohort Study D’Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ,… read more here.
Keywords: rapid genome; diagnostic yield; genome; seizure onset ... See more keywords
Rapid Genome Sequencing in the Critically Ill.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical chemistry"
DOI: 10.1373/clinchem.2018.293506
Abstract: Genetic conditions, already recognized as a major cause of morbidity and mortality in children, are increasingly the focus of diagnostic questions in neonatal and pediatric intensive care units (NICU/PICU)6. When a genetic disorder is suspected… read more here.
Keywords: critically ill; rapid genome; nicu picu; genome sequencing ... See more keywords