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The Genomics England Research Environment provides access to Genomics England data, including genomes, variants and phenotypic data from rare disease and cancer patients from the 100,000 Genomes ...
In this explainer episode, we’ve asked Katrina Stone, Clinical Genetics Doctor, and Clinical Fellow at Genomics England, to explain what happens when you go for whole genome sequencing for a rare ...
The Participant Panel is a key independent advisory group for Genomics England, who work to ensure that the voices of patients, their families, and their experiences inform the work that we do. In ...
There are thousands of potential conditions that can be tested for through genome sequencing. It was important for us to carefully consider which conditions should be looked for in the Generation ...
In this explainer episode, we’ve asked Meriel McEntagart, Clinical Geneticist in the NHS and Clinical Lead for Rare Disease Technologies at Genomics England, to explain how genetic conditions can be ...
I'm submitting an abstract or poster to a conference ...
The Participant Panel is made up of a diverse group of people whose data is held in the National Genomic Research Library. Members come from different walks of life and bring their life experiences of ...
Genomics England began as a vessel to execute the UK Government's bold plan to sequence 100,000 whole genomes and incorporate genomic medicine into routine care in the NHS, a feat we achieved in 2018 ...
Genomics England's very first initiative – sequencing 100,000 genomes from around 85,000 NHS patients affected by rare disease or cancer – is leading to groundbreaking insights and continued findings ...
Dave was diagnosed with microphthalmia as a child and joined the 100,000 Genomes Project in March 2017. He is a member of the independent Participant Panel and is currently the Chairman of the Patient ...