The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ
Welcome: Ellie McDonagh | EMBL
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
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage | Nature Cancer
Latest News
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
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
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
PanelApp (@PanelAppTeam) / Twitter
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
PanelApp (@PanelAppTeam) / Twitter
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ
Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
