Ellen McDonagh - Informatics Science Director - Open Targets | LinkedIn
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
Genomics England PanelApp
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution - ScienceDirect
PanelApp (@PanelAppTeam) / Twitter
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
G2P: Using machine learning to understand and predict genes causing rare neurological disorders | bioRxiv
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
People - Open Targets
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ
PDF) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | Angela Douglas - Academia.edu
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels | Nature Genetics
PanelApp (@PanelAppTeam) / Twitter
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
Genomics England PanelApp
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage | Nature Cancer
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
Welcome: Ellie McDonagh | EMBL
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels | Nature Genetics
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
