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Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder | Genetics and Genomics | JAMA

Published: July 11, 2023

This prospective multicenter study of 400 hospitalized infants with a suspected genetic disorder evaluated rates of molecular diagnostic yield, time to return o

Source: jamanetwork.com

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Whole Genome Sequencing Boosts Diagnosis of Rare Disease in Infants

Published: July 11, 2023

Whole genome scans took longer than a commercially available test, but not for most urgent cases

Source: medpagetoday.com

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San DiegoUnited StatesRhode IslandTufts Medical CenterBarlett SteeleKristina FioreJonathan DavisJill MaronRady Children Institute For Genomic MedicineNational CenterTranslational SciencesGenomic MedicineIll NeonatesInfants HospitalMedpage TodayTranslational Science AwardsAdvancing Translational SciencesRady ChildrenAthena Diagnostics