Bioinformatics and data science
Making sense of genomic and healthcare data to improve diagnosis, treatments, and lives of patients.
Developing tools to support genomic medicine
Our large team of bioinformaticians have the task of analysing whole genome sequence data for clinical applications. Our work promotes us to keep in touch with best practice and standards across our industry with the most advanced tools.
When other commercial or open source tools won't satisfy our needs, our own R&D will develop new applications which, when relevant, will become available to the global bioinformatics community.
Selected major technologies
We use high-performance, cutting-edge computing tools, technologies, and techniques to find and interpret genetic variation.
Products we've developed
The bioinformatics and data science team significantly impacts the development products and services that Genomics England builds to bring value to patients in the UK and the research ecosystem worldwide.
Research Environment
Interpretation Platform
The Interpretation Platform (IP) represents a suite of applications developed to facilitate the interpretation of whole genome sequencing (WGS) data in the NHS Genomic Medicine Service. Learn more
Genomics England Report Models
Aims to standardize data exchanges with Genomics England systems internally and externally, enabling the data exchanges to be programming language and technology-agnostic. Learn more
Clinical Variant Ark
The Clinical Variant Ark (CVA) is the knowledge base built from NHS clinical scientist interpretations of rare disease patients in the 100,000 Genomes Project and NHS Genomic Medicine Service. Learn more
Interactive Variant Analysis
Interactive Variant Analysis (IVA) provides users with an IVA web app to analyse alignment and variants indexed in OpenCGA. Learn more