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A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage | Nature Cancer
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ
Genomic loci susceptible to systematic sequencing bias in clinical whole genomes. - Abstract - Europe PMC
Genomic loci susceptible to systematic sequencing bias in clinical whole genomes. - Abstract - Europe PMC
PDF) Single base substitutions in the CHM promoter as a cause of choroideremia
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Loukas Moutsianas - Head of Bioinformatics Research Services - Genomics England | LinkedIn
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels | Nature Genetics
Lukasz Stasiak (@LPStasiak) | Twitter
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Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution - ScienceDirect
PDF) Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project
Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms | medRxiv
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Ellen MCDONAGH | Lead Scientific Curator | Bsc, PhD. | Stanford University, CA | SU | Queen Mary University of London
Single‐base substitutions in the CHM promoter as a cause of choroideremia - Radziwon - 2017 - Human Mutation - Wiley Online Library
Ellen Thomas's research works | Queen Mary, University of London, London (QMUL) and other places
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