The Lancet Neurology
Fecha de publicación:
Autores: Jessica Rexach, MD., Hane Lee, PhD., Julian A Martinez-Agosto, MD., Andrea H Németh, PhD., Brent L Fogel, MD
Background: Next-generation sequencing technologies allow for rapid and inexpensive large-scale genomic analysis, creating unprecedented opportunities to integrate genomic data into the clinical diagnosis and management of neurological disorders. However, the scale and complexity of these data make them difficult to interpret and require the use of sophisticated bioinformatics applied to extensive datasets, including whole exome and genome sequences.