6th Plenary – GA4GH
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
PDF) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | tanya lam - Academia.edu
Arianna TUCCI | Clinical Geneticist MD PhD | MD, PhD | 100000 Genomes Project | Research profile
The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
Eleanor Williams (@williams_e_m) / X
Genomics England PanelApp
Kristina IBÁÑEZ | Senior data scientist in genomics | PhD | Queen Mary, University of London, London | QMUL | Research profile
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage | Nature Cancer
PanelApp Australia
Genomics England PanelApp
Ellen McDonagh - Translational Informatics Director - Open Targets | LinkedIn
Volume 51 Issue 11, November 2019
Ellen McDonagh - Translational Informatics Director - Open Targets | LinkedIn
6th Plenary – GA4GH
Genomics England PanelApp
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 - Translational Informatics Director - Open Targets | LinkedIn
People - Open Targets
Louise DAUGHERTY | Senior Biocurator - Data | BSc (Hons), MSc | Research profile
PanelApp Australia
Ellen McDonagh - Translational Informatics Director - Open Targets | LinkedIn
