The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
Ellen McDonagh, Open Targets Informatics Sci Director | People | EMBL's European Bionformatics Institute
Genomics England PanelApp
People - Open Targets
Ellen McDonagh - Translational Informatics Director - Open Targets | LinkedIn
Ellen McDonagh - Translational Informatics Director - Open Targets | LinkedIn
G2P: Using machine learning to understand and predict genes causing rare neurological disorders | bioRxiv
Louise DAUGHERTY | Senior Biocurator - Data | BSc (Hons), MSc | Research profile
Eleanor Williams (@williams_e_m) / X
People - Open Targets
Genomics England PanelApp
6th Plenary – GA4GH
Ellen McDonagh - Translational Informatics Director - Open Targets | LinkedIn
Genomics England PanelApp
G2P: Using machine learning to understand and predict genes causing rare neurological disorders | bioRxiv
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
PanelApp Australia
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 Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report
Volume 51 Issue 11, November 2019
PDF) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | tanya lam - Academia.edu
