Whole-genome sequencing of rare disease patients in a national healthcare system
|Study ID||Alternative Stable ID||Type|
Study Datasets 1 dataset.
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Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and mediating genes for more than half such disorders remain to be discovered. We implemented whole-genome sequencing (WGS) in a national healthcare system to streamline diagnosis and to discover unknown aetiological variants, in the coding and non-coding regions of the genome. In a pilot study for the 100,000 Genomes Project, we generated WGS data for 13,037 participants, of whom 9,802 had a ... (Show More)
|Illumina HiSeq 4000||1|