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Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.

Jill L Maron,Stephen Kingsmore,Bruce D Gelb,Jerry Vockley,Kristen Wigby,Jennifer Bragg,Annemarie Stroustrup,Brenda Poindexter,Kristen Suhrie, Jae H Kim,Thomas Diacovo,Cynthia M Powell,Andrea Trembath,Lucia Guidugli,Katarzyna A Ellsworth,Dallas Reed,Anne Kurfiss,Janis L Breeze, Ludovic Trinquart,Jonathan M Davis

JAMA（2023）

Cited 3|Views15
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Abstract
The molecular diagnostic yield for genomic sequencing was higher than a targeted neonatal gene-sequencing test, but the time to return of routine results was slower. Interlaboratory variant interpretation contributes to differences in molecular diagnostic yield and may have important consequences for clinical management.
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Key words
targeted neonatal gene panel,gene panel,sequencing,infants,whole-genomic
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