In Neuron ; h5-index 148.0
Successes in neuroscience using a genetics-first approach to characterizing disorders such as autism have eclipsed the scientific and clinical value of a comprehensive phenotype-first-clinical or molecular-approach. Recent high-throughput phenotyping techniques using machine learning, electronic medical records, and even administrative databases show the value of a synthesis between the two approaches.
Kohane Isaac S
autism, electronic health record, endophenotypes, genetics-first, phenome-wide study, phenotyping, real-world data