academic article

• Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences..  NPJ genomic medicine.  1:-. 2016
• A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases..  Genome medicine.  7:-. 2015
• Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders..  Science translational medicine.  6:-. 2014
• Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units..  Science translational medicine.  4:-. 2012