FEB 24, 2016 6:00 AM PST

The 100,000 genomes project

  • Tim Hubbard, PhD

    Professor of Bioinformatics, Head of Department of Medical & Molecular Genetics, Director of Bioinformatics King's Health Partners, Faculty of Life Sciences & Medicine, King's College London


In December 2012 the UK Prime Minister announced the 100,000 genomes project to introduce whole genome sequencing for treatment into the UK National Health Service (NHS) on a large scale. Since then more than 5,000 whole genomes have been sequenced through pilots organised by Genomics England, the body set up to deliver the project. In addition major components to deliver the main project have been put in place: 13 NHS Genome Medicine Centres have been setup across England involving ~90 hospitals which will recruit patients and collect samples for sequencing and associated clinical data. Illumina was announced as the partner to deliver the whole genome sequences. Several companies have been contracted to provide initial genome interpretation services. Finally Genomics England has invited applications from UK researchers and NHS Clinicians to join its new Clinical Interpretation Partnership to analyse the data generated from the project. I will introduce the project and discuss the challenges of handling clinical grade whole genome sequence at scale to deliver both timely and usable summary reports to clinicians and a secure environment for research
Learning objectives:
* An understanding of the UK 100,000 Genomes Project
* How diagnostic results will be generated and fed back to clinicians and patients
* How genome and clinical data will be used enable scientific discovery and medical insight

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FEB 24, 2016 6:00 AM PST

The 100,000 genomes project

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