Implementation of Rapid Genome Sequencing for Infants with Congenital Heart Disease
Thomas Hays, Rebecca Hernan, Michele Disco, Emily Griffin, Nimrod Goldshtrom, Diana Vargas, Ganga Krishnamurthy, Atteeq Ur Rehman, Amanda T. Wilson, Saurav Guha, Shruti Phadke, Volkan Okur, Dino Robinson, Vanessa Felice, Avinash Abhyankar, , Wendy K. Chung
This study evaluates rapid genome sequencing in infants with congenital heart disease, finding genetic diagnoses in 27% of cases and clinical management changes in 62% of diagnosed infants.
medRxiv · Dec 16, 2022 · PreprintGenetic & Genomic Medicine