Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
Luca BrunelliSabrina M JenkinsJames M GudgeonSteven B BleylChristine E MillerTatiana TvrdikShale A DamesBetsy OstranderJosue A F DaboubBrandon A ZielinskiErin K ZinkhanHunter R UnderhillTheodore WilsonJoshua L BonkowskyChristian C YostLorenzo D BottoJustin JenkinsTheodore J PysherPinar Bayrak-ToydemirRong MaoPublished in: Molecular genetics & genomic medicine (2019)
This study shows that a gene panel that includes the majority of known disease-causing genes can rapidly identify a diagnosis in a large number of tested infants. Due to simpler deployment and interpretation and lower costs, this approach might represent an alternative to ES/GS in the NICU/PICU/CICU.