Genomics England Enters Bioinformatics Partnership with Illumina

Genomics England and Illumina, Inc today announce a partnership to develop a platform and knowledge base that can be used to improve and automate genome interpretation. The tools will operate within the Genomics England secure database to enable researchers and clinicians to access information and reports more readily.

Genomics England is partnering with Illumina to develop and deliver systems for clinical interpretation, decision support and knowledge curation for the 100,000 Genomes Project.

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Genomics England selects ICON as Data Management Partner

Genomics England has today (09/02/16) announced that it has selected ICON plc, a global provider of drug development solutions and services to the pharmaceutical, biotechnology and medical device industries, as data management partner for the 100,000 Genomes Project.

ICON will use its genomics expertise and powerful data management capabilities to validate clinical data from the 70,000 participating patients and their families. This work will take place within the secure Genomics England data environment.

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First children receive diagnoses through 100,000 Genomes Project

Georgia Walburn-Green with her parents.

The first children to receive a genetic diagnosis through the 100,000 Genomes Project have been given their results at Great Ormond Street Hospital (GOSH), part of the North Thames NHS Genomic Medicine Centre.

Both Georgia Walburn-Green and Jessica Wright had rare, undiagnosed, genetic conditions when they joined the Project. Whole genome sequencing pinpointed the underlying genetic changes responsible for their conditions.

As well as removing a large amount of uncertainty for the families,

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New NHS centres join 100,000 Genomes Project

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Two new NHS Genomic Medicine Centres have today been unveiled as being part of the unique, innovative and world-leading 100,000 Genomes Project.

Yorkshire and the Humber and West of England are the latest NHS Genomic Medicine Centres to be added to the 11 centres already up and running. They are expected to start their work in February next year.

The 100,000 Genomes Project was announced by the Prime Minister in 2012 in a bid to transform diagnosis and treatment for patients with cancer and rare diseases in the fast-emerging field of genomic medicine.

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Genomics England Contracts with WuXi NextCODE as Clinical Interpretation Partner in both Rare Disease and Cancer

Nextcode logo

Genomics England has today announced that it has contracted with WuXi NextCODE as a Clinical Interpretation Partner for the 100,000 Genomes Project. The China, US and Iceland-based company is the first to work with them on cancer samples and will also interpret samples in rare disease. Genomics England will work with the clinical interpretation partners to drive up the quality of interpretation of genomic data. This will lead to better understanding of disease and more personalised care for patients in the future.

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Genomics England Selects Cognizant as a Technology Partner for the 100,000 Genomes Project

Cognizant logo

Genomics England has selected Cognizant as a technology partner to help design and implement the IT operating environment for the 100,000 Genomes Project.

The 100,000 Genomes Project aims to sequence 100,000 whole genomes from NHS patients and their families, of which around 70,000 are participants with certain types of cancer or rare diseases. The project aims to enable new scientific discovery, medical insights and diagnostics. When completed, the NHS will be able to offer genomic medicine and personalised treatments to patients with conditions that are currently hard to treat.

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Northern Ireland joins the 100,000 Genomes Project

senior female patient in hospital

Health Minister in the Northern Ireland Executive, Simon Hamilton, today announced £3.3m investment to create a Northern Ireland Genomic Medicine Centre that will provide rare disease patients with a much earlier and more accurate diagnosis.

It is estimated that 1 in 17 people are born with or develop a rare disease during their lifetime. At least 80% of rare diseases have an identified genetic component, with 50% of new cases being found in children.

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Genomics England selects LabKey Software for integrated data management solution

Labkey Software logo

Genomics England selects LabKey Software for integrated data management solution

Genomics England has chosen the LabKey Server open source platform to provide its integrated data management solution. Genomics England will work with LabKey to design and develop a solution that will integrate and securely share complex clinical and genomic data for the 100,000 Genomes Project.

The 100,000 Genomes Project aims to sequence 100,000 whole genomes from approximately 70,000 people.

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Genomics England announces interpretation partners and expands industry engagement

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Genomics England has today (30th September 2015) announced that it has contracted with Congenica and Omicia to work with them on the interpretation of the genomes from 8,000 patients participating in the 100,000 Genomes Project.  Work with LockheedMartin-Cypher, Nanthealth and WuxiNextcode continues as part of a test phase.  This is in addition to ongoing work with sequencing partner Illumina who are also exploring a variety of bioinformatic challenges around sequencing and clinical interpretation.

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Garvan partners with Genomics England to advance genomic medicine

Mark and John

The Garvan Institute of Medical Research has signed a memorandum of understanding with Genomics England, the organisation established by the UK’s Department of Health to deliver the world-first 100,000 Genomes Project. The two organisations will share resources and expertise to advance genomic medicine in Australia and the UK.

The 100,000 Genomes Project will sequence genomes from around 70,000 National Health Service (NHS) patients, focusing on individuals with rare diseases or cancer.

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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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Successful bidders for Clinical Interpretation Services announced

close up illustration of DNA

Genomics England has today announced the four companies it has chosen to explore working with on the interpretation of the genomes of the first 8,000 patients participating in the 100,000 Genomes Project.

Genomics England continues to work with Illumina and are also expanding their partnership to explore a variety of bioinformatic challenges around sequencing and clinical interpretation.

Genomics England launched a ‘bake off’ for annotation and interpretation in the Spring of 2014 to determine the quality of offerings around the world. 

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Clinicians, Researchers and Industry collaborate with the 100,000 Genomes Project

GENE Consortium launch event 2015

  • First 10 companies come forward to create the GENE Consortium, to accelerate the development of new diagnostics and treatments for patients
  • Over 28 teams established from amongst the UK’s leading scientific researchers, to analyse the 100,000 genome dataset and identify new scientific and medical breakthroughs

Genomics England has today (26 March 2015) announced a new collaboration as part of the 100,000 Genomes Project, to accelerate the development of new diagnostics and treatments for patients.

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Saint Mary’s Hospital becomes the first NHS Genomic Medicine Centre to recruit patients to the 100,000 Genomes Project

The first patient was recruited to the main phase of the ground-breaking 100,000 Genomes Project this week. The important milestone follows on from the pilot phase of the project which announced the first diagnosis earlier this month.

Michelle Holding, 32, was recruited to the project via Saint Mary’s Hospital, which is part of the Greater Manchester NHS Genomic Medicine Centre.

The hospital is one of 11 NHS Genomic Medicine Centres across the country that will lead the delivery of the 100,000 Genomes Project,

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First patients diagnosed through the 100,000 Genomes Project

The first family are set to benefit from ground-breaking developments in whole genome sequencing. Health Secretary Jeremy Hunt will today (Wednesday 11 March) meet the first patients to be diagnosed with rare disease through the 100,000 Genomes Project. They will now receive effective, personalised treatment, as well as helping prevent future generations who share their DNA from suffering a life of uncertainty about similar symptoms.

Newcastle University and Hospitals worked with Genomics England to analyse the genomes and validate the findings as part of the project’s pilot scheme.

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Genomics England announces successful companies in Small Business Research Initiative (SBRI) for a share of £8 million

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Genomics England today (11 March 2015) announced the successful companies in its Small Business Research Initiative (SBRI) Phase Two assessment of Enabling Technologies for Genomics Sequence Data Analysis and Interpretation.  £8 million is being made available for the product development stage of the competition with the companies adopting a programme of 12 to 24 months each.

This competition seeks development of technological innovations that will enhance genomic sequence data analysis capabilities.

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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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NHS Genomic Medicine Centres announced for 100,000 Genomes Project

NHS England has announced eleven Genomic Medicine Centres that will lead the way in delivering the 100,000 Genomes Project. This marks the start of the main phase of the Project in 2015.

It is anticipated that there will be over 75,000 participants, which will include some patients with life threatening and debilitating disease. The GMCs will begin recruitment to the project from 2nd February 2015.

After samples are collected, they will be sent securely to Illumina,

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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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Genomics England publishes results of its annotation assessment

Genomics England, the company leading the UK’s 100,000 Genomes Project, has released details of those companies that distinguished themselves in its annotation assessment exercise. Genomics England is committed to kick-starting the development of a UK genomics industry and this assessment exercise is part of that aim, as well as to evaluate and select potential service providers for the 100,000 Genomes Project.

Genomics England sent an Annotation Assessment Questionnaire to twenty eight participants together with the BAM and Variant Call Format files in respect of ten cancer/normal samples and fifteen rare disease trio samples in February 2014.

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