Ellen McDonagh - Translational Informatics Director - Open Targets | LinkedIn
Eleanor Williams (@williams_e_m) / X
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
PDF) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | tanya lam - Academia.edu
People - Open Targets
PanelApp Australia
Genomics England PanelApp
People - Open Targets
Ellen McDonagh - Translational Informatics Director - Open Targets | LinkedIn
Genomics England PanelApp
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 - Translational Informatics Director - Open Targets | LinkedIn
6th Plenary – GA4GH
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
Louise DAUGHERTY | Senior Biocurator - Data | BSc (Hons), MSc | Research profile
Ellen McDonagh - Translational Informatics Director - Open Targets | LinkedIn
Genomics England PanelApp
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM