All analysis on the Genomics England dataset happens within a secure, cloud workspace called the Research Environment. To access the data, researchers must first apply to become a member of either the ...

We have developed a machine learning tool for scanning large volumes of scientific literature to find reports of gene-disease ...

In this explainer episode, we’ve asked Arina Puzriakova, Scientific Curator at Genomics England, to explain what a polygenic disorder is. You can also find a series of short videos explaining some of ...

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 ...

The Generation Study is a research initiative aiming to explore the use of whole genome sequencing in newborns, to screen for more than 200 rare genetic conditions. This study will recruit 100,000 ...

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 ...

Hundreds of babies have begun to be tested for over 200 rare genetic conditions as part of a world-leading study in NHS hospitals that aims to screen up to 100,000 newborns in England. The Generation ...

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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 ...

Amelia is 15 years old and joined the 100,000 Genomes Project in 2015. She has a condition that is likely genetic in origin but due to its rarity or lack of discovery by current testing methods has no ...