Implications for the colorectal surgeon following the 100 000 Genomes Project
Sign Up to like & getrecommendations! Published in 2021 at "Colorectal Disease"
DOI: 10.1111/codi.15539
Abstract: The 100 000 Genomes Project was completed in 2019 with the objective of integrating genomic medicine into routine National Health Service (NHS) clinical pathways. This project and genomic research will revolutionize the way we practice… read more here.
Keywords: medicine; 100 000; genomes project; colorectal surgeon ... See more keywords
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-107528
Abstract: Supplemental methods The 100K Genomes Project (100KGP) is a national genome sequencing initiative approved by the HRA Committee East of England, Cambridge South (REC: 14/EE/1112). More information about this project is available online (www.genomicsengland.co.uk and… read more here.
Keywords: data 100; project resolve; using data; genomes project ... See more keywords
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-108065
Abstract: Background Primary ciliopathies represent a group of inherited disorders due to defects in the primary cilium, the ‘cell’s antenna’. The 100,000 Genomes Project was launched in 2012 by Genomics England (GEL), recruiting National Health Service… read more here.
Keywords: caused ciliopathies; 100 000; genomes project; malformations caused ... See more keywords
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
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