The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
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The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report
Welcome: Ellie McDonagh | EMBL
Volume 51 Issue 11, November 2019
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
People - Open Targets
Louise DAUGHERTY | Senior Biocurator - Data | BSc (Hons), MSc | Research profile
Ellen McDonagh - Translational Informatics Director - Open Targets | LinkedIn
People - Open Targets
Arianna TUCCI | Clinical Geneticist MD PhD | MD, PhD | 100000 Genomes Project | Research profile
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM
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A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage | Nature Cancer
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G2P: Using machine learning to understand and predict genes causing rare neurological disorders | bioRxiv
6th Plenary – GA4GH
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Ellen McDonagh - Translational Informatics Director - Open Targets | LinkedIn
Ellen McDonagh - Translational Informatics Director - Open Targets | LinkedIn
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ
