Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

Luca Brunelli,Sabrina Malone Jenkins,James M. Gudgeon,Steven B. Bleyl,Christine E. Miller,Tatiana Tvrdik,Shale Dames,Betsy Ostrander,Josue A. F. Daboub,Brandon A. Zielinski,Erin K. Zinkhan,Hunter R. Underhill,Theodore Wilson,Joshua L. Bonkowsky,Christian C. Yost,Lorenzo D. Botto,Justin Jenkins,Theodore J. Pysher,Pinar Bayrak-Toydemir,Rong Mao

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

2019

Background Exome/genome sequencing (ES/GS) have been recently used in neonatal and pediatric/cardiac intensive care units (NICU and PICU/CICU) to diagnose and care for acutely ill infants, but the effectiveness of targeted gene panels for these purposes remains unknown.

Keywords:

Gene
Medicine
Bioinformatics
Pediatrics
Compound heterozygosity
FLNA
Exome
GNAS complex locus
intensive care
Sanger sequencing
FANCB
Neonatology

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