A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage | Nature Cancer
People - Open Targets
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
6th Plenary – GA4GH
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels | Nature Genetics
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
Genomics England PanelApp
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
Ellen McDonagh, Open Targets Informatics Sci Director | People | EMBL's European Bionformatics Institute
People - Open Targets
PanelApp Australia
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
Genomics England PanelApp
PDF) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | tanya lam - Academia.edu
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
People - Open Targets
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
