[PDF][PDF] A diagnosis for all rare genetic diseases: the horizon and the next frontiers
KM Boycott, T Hartley, LG Biesecker, RA Gibbs… - Cell, 2019 - cell.com
Cell, 2019•cell.com
The introduction of exome sequencing in the clinic has sparked tremendous optimism for the
future of rare disease diagnosis, and there is exciting opportunity to further leverage these
advances. To provide diagnostic clarity to all of these patients, however, there is a critical
need for the field to develop and implement strategies to understand the mechanisms
underlying all rare diseases and translate these to clinical care.
future of rare disease diagnosis, and there is exciting opportunity to further leverage these
advances. To provide diagnostic clarity to all of these patients, however, there is a critical
need for the field to develop and implement strategies to understand the mechanisms
underlying all rare diseases and translate these to clinical care.
The introduction of exome sequencing in the clinic has sparked tremendous optimism for the future of rare disease diagnosis, and there is exciting opportunity to further leverage these advances. To provide diagnostic clarity to all of these patients, however, there is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care.
cell.com
