Comparative Study | Genomic sequencing yields higher diagnostic results than targeted neonatal gene test in suspected genetic disorders

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder – JAMA (link to abstract – $ for full-text)

Author Interview: Genomic Sequencing for Ill Newborns – JAMA

News Release: Genome sequencing highly effective at diagnosing genetic disorders in newborns and infants – Tufts University

Commentary on Twitter (thread – click for more)

1/n With respect to my colleagues involved in the GEMINI study that was just published, I am worried about the danger of a major message from this report:https://t.co/hkUeRd2nsb

— John Greally (@greally) July 14, 2023