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First received: February 16, 2024

Clinical Trial: Newborn Genomic Sequencing Pilot Study

Study Status: COMPLETED

Recruit Status: COMPLETED

Condition: Genetic Disease

Study Type: INTERVENTIONAL


Official Title: Newborn Genomic Sequencing (BeginNGS) Prospective Pilot Study

Brief Summary: The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS.Newborns who are not suspected of having genetic diseases and who are admitted to the NICU at Rady Children's Hospital, San Diego, will be enrolled.The main questions this study aims to answer are:What is the diagnostic yield of diagnostic whole genome sequencing (DWGS) in this population?What is the diagnostic sensitivity and specificity of BeginNGS and whole exome sequencing (WES) as…

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