Genomics England PanelApp
Welcome: Ellie McDonagh | EMBL
PanelApp Australia
Eleanor Williams (@williams_e_m) / X
PDF) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | tanya lam - Academia.edu
G2P: Using machine learning to understand and predict genes causing rare neurological disorders | bioRxiv
Louise DAUGHERTY | Senior Biocurator - Data | BSc (Hons), MSc | Research profile
Ellen McDonagh, Open Targets Informatics Sci Director | People | EMBL's European Bionformatics Institute
Genomics England PanelApp
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
Volume 51 Issue 11, November 2019
Genomics England PanelApp
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
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
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ
Kristina IBÁÑEZ | Senior data scientist in genomics | PhD | Queen Mary, University of London, London | QMUL | Research profile
Ellen McDonagh - Translational Informatics Director - Open Targets | LinkedIn
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage | Nature Cancer
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 | Research profile
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
