Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
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DOI: 10.1136/jmedgenet-2022-108476
Abstract: Background The 100 000 Genomes Project (100K) recruited National Health Service patients with eligible rare diseases and cancer between 2016 and 2018. PanelApp virtual gene panels were applied to whole genome sequencing data according to Human… read more here.
Keywords: genomes project; recruiting clinicians; 000 genomes; 100 000 ... See more keywords