Article
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Journal of medical genetics - 1 Dec 2022
Best Sunayna, Yu Jing, Lord Jenny, Roche Matthew, Watson Christopher Mark, Bevers Roel P J, Stuckey Alex, Madhusudhan Savita, Jewell Rosalyn, Sisodiya Sanjay M, Lin Siying, Turner Stephen, Robinson Hannah, Leslie Joseph S, Baple Emma, Toomes Carmel, Inglehearn Chris, Wheway Gabrielle, Johnson Colin A
Abstract excerpt
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 Phenotyping Ontology (HPO) terms entered by recruiting clinicians to guide focused analysis. METHODS: We developed a reverse phenotyping strategy to identify 100K...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.