|Title||A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.|
|Publication Type||Journal Article|
|Year of Publication||2019|
|Authors||Boycott, KM, Hartley, T, Biesecker, LG, Gibbs, RA, A Innes, M, Riess, O, Belmont, J, Dunwoodie, SL, Jojic, N, Lassmann, T, Mackay, D, I Temple, K, Visel, A, Baynam, G|
|Date Published||2019 Mar 21|
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.