FEB 24, 2016 06:00 AM PST

The 100,000 genomes project

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  • 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
      Tim J. P. Hubbard is Professor of Bioinformatics, Head of Department of Medical and Molecular Genetics 
at King's College London and Director of Bioinformatics
 for King's Health Partners/King's College London. He is 
also Head of Genome Analysis at Genomics England,
 the company set up by the UK Department of Health to execute the 100,000 genomes project, which aims to mainstream the use of whole genome sequence analysis for treatment in the UK National Health Service (NHS). Tim graduated with a BA in Biochemistry 
from University of Cambridge in 1985 and a PhD in 
Protein Design from the Department of Crystallography,
 Birkbeck College, London, in 1988. In 1997 he joined
 the Wellcome Trust Sanger Institute where he was one of the organizers of the sequencing of the human genome. In 1999 he co-founded the Ensembl project to analysis, organise and provide access to the human genome and from 2007 led the GENCODE project to annotate the structure of all human genes. Tim's research interests are in bioinformatics, computational biology and genome informatics. He is also actively involved in efforts to improve data sharing in science and develop open access publishing resources. He is a member of the cross funding agency Expert Advisory Board on Data Access (EAGDA) and is chair of the Advisory Board of Europe PubMedCentral.


    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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