Genomics England Archives - Global Genes
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
G2P: Using machine learning to understand and predict genes causing rare neurological disorders | bioRxiv
PDF) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | Angela Douglas - Academia.edu
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
People - Open Targets
People - Open Targets
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution - ScienceDirect
Genomics England on Twitter: "Happy 5th birthday @PanelAppTeam! We are very proud of all that has been achieved - none of which would be possible without the support and contributions from curators,
Latest News
PanelApp (@PanelAppTeam) / Twitter
PanelApp (@PanelAppTeam) / Twitter
Genomics England PanelApp
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage | Nature Cancer
Ellen Thomas « 2022 ESDR Annual Meeting
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study - The Lancet Neurology
PanelApp Australia
Genomics England PanelApp
Welcome: Ellie McDonagh | EMBL
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
Open Targets - #OpenTargetsNews We have a new Informatics Science Director, Ellen McDonagh! 🎉🎊 Ellen has has joined the European Bioinformatics Institute (EMBL-EBI) and will oversee and further develop our informatics research
Ellen McDonagh - Informatics Science Director - Open Targets | LinkedIn
PanelApp (@PanelAppTeam) / Twitter
Australian Genomics launches local instance of… | Genomics England
