G2P: Using machine learning to understand and predict genes causing rare neurological disorders | bioRxiv
PanelApp (@PanelAppTeam) / Twitter
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
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ
PanelApp Australia
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution - ScienceDirect
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
PDF) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | Angela Douglas - Academia.edu
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
Genomics England Archives - Global Genes
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Genomics England PanelApp
Australian Genomics launches local instance of… | Genomics England
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,
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
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
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
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
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
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
