Whole-genome sequencing of patients with rare diseases in a national health system
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown ae...
Main Authors: | Turro, E, Astle, WJ, Megy, K, Bennett, DL, Ormondroyd, E, Roberts, I, Roy, NBA, Themistocleous, A, Watkins, H |
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Other Authors: | NIHR BioResource for the 100,000 Genomes Project |
Format: | Journal article |
Language: | English |
Published: |
Springer Nature
2020
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