Sophie Shaw

Lead Bioinformatician For Research And Development at All Wales Medical Genomics Service

Sophie Shaw is a seasoned bioinformatician with extensive experience in genomics and bioinformatics support. Currently serving as the Lead Bioinformatician for Research and Development at the All Wales Medical Genomics Service since May 2021, Sophie previously worked at the University of Aberdeen from May 2015 to May 2021, where contributions included providing bioinformatics support on various genomics projects involving next-generation sequencing data. Sophi's past roles include an Instructor at the international Workshop on Genomics from 2014 to 2017, and an Associate Research Fellow at the University of Exeter, where research focused on the interactions of Trichoderma species and Sclerotinia sclerotiorum. Education includes a BSc in Molecular Genetics from the University of Exeter and A Levels from Bridgwater College.

Location

Cardiff, United Kingdom

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All Wales Medical Genomics Service

The All Wales Medical Genomics Service (AWMGS) is a multi-award winning NHS organisation, providing comprehensive diagnostic testing and clinical services including genetic counselling to people who are living with, or are concerned about cancer and rare genetic conditions. Quality assured by the UK Accreditation body (UKAS), AWMGS is commissioned by Welsh Government as part of the ‘Genomics for Precision Medicine Strategy, 2017’ to deliver high calibre, innovative services which are underpinned by cutting edge Research & Development. We pride ourselves on our multifaceted collaborative partnerships with Higher Education Institutes (HEIs) in Wales including Cardiff University, Pathogen Genomics Unit and Wales Gene Park – a biomedical research unit which collectively form our umbrella organisation Genomics Partnership Wales. Our headquarters are centrally located at the University Hospital for Wales (UHW) in Cardiff, which is named as one of six Centre of Excellence for Precision Medicine by Innovate UK. Additional specialist genetic hubs are located in North (Wrexham) and West of Wales (Swansea). The All Wales Genomics Laboratory (AWGL) employs over 150 staff including Clinical Scientists, Bioinformaticians and Genetic Technologists who use the latest in high throughput Next Generation Sequencing technology (NGS) to deliver rapid, stratified genomic testing for rare diseases, oncology and prenatal screening. This has greatly improved clinical diagnoses and targeted treatments, transforming healthcare and the lives of people affected. Our clinical team comprises of clinical genetics doctors, genetic counsellors, family history coordinators and administrative staff who work closely with the All Wales Genomics Laboratory and specialist services from Health Boards and Trusts across Wales, including primary care. Clinical genetic doctors and genetic counsellors play a pivotal role in the education and training of non-specialist healthcare


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201-500

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