Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic TestingAn Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study

JAMA Pediatrics
May 2021, Vol 175, No. 5, Pages 449-544
https://jamanetwork.com/journals/jamapediatrics/currentissue

 

Original Investigation
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic TestingAn Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study
Jill L. Maron, MD, MPH; Stephen F. Kingsmore, MD; Kristen Wigby, MD; et al.
online only
JAMA Pediatr. 2021;175(5):e205906. doi:10.1001/jamapediatrics.2020.5906
This comparative effectiveness study reports interim variants and associated interpretations of an ongoing study comparing rapid whole-genomic sequencing with a novel targeted genomic platform.