PDF) Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Genomics England update - ppt download
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis | Genetics in Medicine
Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline | Journal of Medical Genetics
Genomics Education Programme - Community | Facebook
Genomics England on Twitter: "Our #GenomicMedicineService in the @NHS session with @chris_wigley, @CSOSue and Dr Ellen Thomas is starting at 10.45 - don't miss out! @genomicsedu @NorthThamesGLH @SWGLH @NEYGenomics @NHSgms Register here
300+ "Ellen Thomas" profiles | LinkedIn
Twitter takover – Dr Ellen Thomas / Twitter
PDF) Summary Document - NHS Genomic Medicine Centres: National Service Evaluation of the Consent Process and Participant Materials used in the 100,000 Genomes Project
PanelApp Australia
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis | Genetics in Medicine
Genomics England update - ppt download
Genomics England PanelApp
The Role of Genomics in Mainstream Medicine - M4RD
PanelApp Australia
The contribution of common regulatory and protein-coding TYR variants in the genetic architecture of albinism | medRxiv
Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline | Journal of Medical Genetics
Genomics England Innovation Showcase 21
The Role of Genomics in Mainstream Medicine - M4RD
Advances in Rare Disease Diagnosis | PhenoTips
300+ 份“Ellen Thomas”的职业档案| 领英
Genomics England update - ppt download
Genomics England PanelApp
Emma Baple and Dom McMullan 20th February ppt download
