May 2021, Vol 175, No. 5, Pages 449-544
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.
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.