Matching mitochondria – Important new research uses 100,000 Genomes Project data

Scientists publish new research using data from the 100,000 Genomes Project rare disease programme

Scientists from the University of Cambridge have announced a discovery about the inheritance of mitochondrial DNA using data from the 100,000 Genomes Project. The scientists are part of the neurology domain of the Genomics England Clinical Interpretation Partnership (GeCIP). These important scientific findings represent the beginning of a stream of valuable discoveries that will come from the 100,000 Genomes Project data.

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Genomics England’s GeCIP virtual Research Environment comes online

The 100,000 Genomes Project’s primary goal is to transform the NHS: embedding genomic medicine for earlier diagnosis and more effective treatments. At the same time, the Project is tasked with making the resulting data available to researchers across the world to better interpret genomic data − leading to improved clinical understanding and patient outcomes.

In mid June, we took a big step towards achieving our research goals, with the first groups of scientists accessing data from the Project’s main programme.

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PanelApp reaches 150 diagnostic-grade virtual gene panels

The Genomics England PanelApp – our public crowdsourcing tool for evaluating and sharing rare disease gene panels – has now reached 150 virtual gene panels at version 1 or above. This means that the ‘green genes’ on these panels can be used in the analysis of rare disease genomes in the 100,000 Genomes Project, helping to find a diagnosis for patients and their families.

The publicly-available gene panels (or lists) are first created by our team of curators.

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Professor Ewan Birney appointed to the Genomics England Board

Genomics England is today (26/05/16) pleased to announce the appointment of Professor Ewan Birney, Director of the European Bioinformatics Institute (EMBL-EBI) and a Senior Scientist at the European Molecular Biology Laboratory, to the Genomics England Board.

As a member of the Board, Professor Birney will play an important role in overseeing all of Genomics England’s activities, ratifying major decisions and setting the overall strategy for the organisation.

Genomics England was set up by the UK’s Department of Health to deliver the 100,000 Genomes Project,

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Rare Disease Day 2016

Rare Disease Day logo

Our clinical lead for rare disease, Dr Richard Scott, gives an update on our work. February 29th 2016 is Rare Disease Day.

Rare disease is a deceptive term. There are 6,000 to 8,000 different rare diseases. This means that although each one is rare, as a group they are common. So much so, that 1 person in 17 is affected with a rare disease. That is 7%.

Until recently,

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New rare disease gene tool launched – PanelApp


Genomics England has developed a unique resource, the ‘PanelApp’. It is a new crowdsourcing tool for the scientific community, allowing knowledge of rare disease genetics to be shared and evaluated. This will create comprehensive evidence-based gene panels for rare diseases. The resource is publically available for anyone who would like to view and download the gene panels. Experts can register as a reviewer to make evaluations of the gene panels.

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Clinical Interpretation Partnership – Applications Open

The Genomics England Clinical Interpretation Partnership (GeCIP) brings together researchers, clinicians and trainees from academia and the NHS. Applications are now open to consortia of researchers to form domains.

Our vision is to create a powerful research and training programme alongside the 100,00 Genomes Project

GeCIP Domains are UK-led consortia of researchers, clinicians and those in training. Each domain will work on improving the clinical application and interpretation of the data in the 100,000 Genomes Project.

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Clinical Interpretation Partnership topics announced

Genomics England has today (19th June) confirmed which researchers will work on data from the 100,000 Genomes Project, and what topics and disease areas they will be working on.

The researchers, from both academia and the NHS, have come together to form the Genomics England Clinical Interpretation Partnership (GeCIP). Their first meeting takes place today in London.

This is an important milestone. The results from the work of these researchers will enable us to better interpret the genomic data,

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Genomics England partners with the UK’s largest biosample facility

Genomics England has announced today a partnership with the NIHR National Biosample Centre, opened in January by the Minister for Life Sciences George Freeman. The £24 million state-of-the-art facility will store the samples of rare disease and cancer patients taking part in the 100,000 Genomes Project.

The Milton Keynes-based Centre, which is the largest biosample facility in the UK, was opened to help increase national capacity and capability to develop research.

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Genomics England calls on the UK research community

Genomics England is today inviting applications to join our new Clinical Interpretation Partnership from UK researchers, NHS Clinicians and those in training where they will work on the unique data resource from the 100,000 Genomes Project.  The goal of the Genomics England Clinical Interpretation Partnership (GeCIP) is to bring together the best researchers in the UK alongside their key international collaborators to ensure we maximise the potential of gaining new biological insights into rare inherited diseases,

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