Name: Genomics England
Address: Queen Mary University of London, Dawson Hall, Charterhouse Square, London, London, EC1M 6BQ, UK
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Reflecting on my bioinformatics internship
By Ella Davyson on 6 Nov 2024

Ella Davyson, PhD Bioinformatics Intern, reflects on her time in the Bioinformatics Research Services team, highlighting her work on identifying gene variants in rare genetic conditions.
Bioinformatics

Rare disease

Careers
Scouring the scientific literature with large language models
By Sam Barnett, Arina Puzriakova, Catherine Snow, Eleanor Williams, and Francisco Azuaje on 17 Oct 2024

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

Rare disease
Whole genome sequencing reveals cause of rare eye condition in South Asian and African communities
By Ayan Younis on 27 Sep 2024

A recent study by Samantha Malka and colleagues used data from the 100,000 Genomes Project to find genetic causes of a rare eye condition in South Asian and African communities.
Research

Rare disease

Diverse Data
Whole genome sequencing finds common cause of neurodevelopmental disorders
By Florence Cornish on 2 Aug 2024

Recent research has discovered a common cause for neurodevelopmental disorders in the non-coding genome, providing a diagnosis to hundreds of people around the world and potentially thousands more.
Research

Rare disease
How can we better predict someone's risk of developing a condition?
By Florence Cornish on 1 Jul 2024

New research by Bradley Jermy and colleagues looks at factors affecting the accuracy of our current prediction tools, and how we could improve them.
Research

Rare disease

Clinical care
How can a genetic diagnosis impact mental health?
By Florence Cornish on 15 May 2024

A genetic diagnosis can impact physical health and treatment, however it can also impacts mental health and emotions. This blog revisits a podcast we recorded for Mental Health Awareness Week.
Rare disease

Clinical care

Blog

Latest

Reflecting on my bioinformatics internship

Scouring the scientific literature with large language models

Whole genome sequencing reveals cause of rare eye condition in South Asian and African communities

Whole genome sequencing finds common cause of neurodevelopmental disorders

How can we better predict someone's risk of developing a condition?

How can a genetic diagnosis impact mental health?

Media contact

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Latest

Reflecting on my bioinformatics internship

Scouring the scientific literature with large language models

Whole genome sequencing reveals cause of rare eye condition in South Asian and African communities

Whole genome sequencing finds common cause of neurodevelopmental disorders

How can we better predict someone's risk of developing a condition?

How can a genetic diagnosis impact mental health?

Media contact

Follow us

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