Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Developmental Defects
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9691823/
https://www.ncbi.nlm.nih.gov/pubmed/35764379
http://dx.doi.org/10.1136/jmedgenet-2022-108476

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9691823/
https://www.ncbi.nlm.nih.gov/pubmed/35764379
http://dx.doi.org/10.1136/jmedgenet-2022-108476

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