Publications

A list of publications arising from and referring to the Project is shown below the citation directions. If you know of a relevant publication not listed here, please contact us.

2018

• • Whole-genome sequencing of rare disease patients in a national heathcare system
    Willem Hendrik Ouwehand
    bioRxiv 2019; doi:10.1101/507244 (01 January 2019)
  • Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing
    Timothy M. Walker, Sarah Walker, Tim E.A. Peto
    N Engl J Med 2018; doi:10.1056/NEJMoal800474 (11 October 2018)
  • Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia
    Jamie M. Ellingford, Glenda Beaman, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst
    bioRxiv 2018; doi:10.1101/438838 (10 October 2018)
  • Challenges in implementing genomic medicine: the 100,000 Genomes Project
    Julian G. Barwell, Rory B.G. O’Sullivan, Laura K. Mansbridge, Joanna M. Lowry, Huw R. Dorkins
    J Transl Genet Genom 2018;2:13; https://doi.org/10.20517/jtgg.2018.17 (11 September 2018)
  • What will follow the first hundred thousand genomes in the NHS?
    Malcolm Grant & John Paul Maytum
    Per Med 2018; doi:10.2217/pme-2018-0025 (20 June 2018)
  • Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL
    Jenny Klintman, Katerina Barmpouti, Samantha JL Knight et al.
    Br J Haematol 2018; doi:10.1111/bjh.15406 (29 May 2018)
  • The 100,000 Genomes Project: bringing whole genome sequencing to the NHS
    Clare Turnbull, Richard H Scott, Ellen Thomas et al.
    BMJ 2018;361:k1687 (24 April 2018)
  • Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
    Stefan Gräf, Matthias Haimel, Marta Bleda et al.
    Nat Comm 2018;9;1416 (12 April 2018)
  • Genomics—an aid to diagnosis not a replacement
    Ingrid Torjesen
    BMJ 2018;360:k1267 (23 March 2018)
  • Introducing Whole Genome Sequencing into routine cancer care: The Genomics England 100,000 Genomes project
    Clare Turnbull, On behalf of Genomics England and the 100,000 Genomes project
    Ann Oncol 2018;29:784–7 (15 February 2018)
  • Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project
    Pauline Robbe, Niko Popitsch, Samantha JL Knight et al.
    Genet Med 2018; doi:10.1038/gim.2017.241 (01 February 2018)
  • Introducing genomics into cancer care
    Sue Hill
    BRJ Surg 2018;105:e14–e15 (17 January 2018)

  2017

  • The rise of the genome and personalised medicine
    Helen K Brittain, Richard Scott, Ellen Thomas
    Clin Med 2017;17(6):545–51 (1 December 2017)
  • The growth of molecular diagnostics: Stratified Medicine Programme, the 100,000 Genomes Project and the future
    Rachel L Nelan, Mary-Kate Hayward, J Louise Jones
    Diagn Histopathol 2017;23(10):458–67 (31 October 2017)
  • “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals towards secondary findings in context of a genomic medicine multidisciplinary team and the 100,000 Genomes Project
    Elizabeth Ormondroyd, Michael P Mackley, Edward Blair et al.
    Genet Med 2017;20:320–8 (26 October 2017)
  • Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females
    Alessia Fiorentino, Kaoru Fujinami, Gavin Arno et al.
    Hum Mutat 2018;39:80–91 (17 October 2017)
  • Commit to talks on patient data and public health
    Vivienne Parry
    Nature 2017;548:137 (08 August 2017)
  • HGVA: the Human Genome Variation Archive
    Javier Lopez, Jacobo Coll, Matthias Haimel et al.
    Nucleic Acids Res 2017;45:W189–W194 (23 May 2017)
  • Socialising the genome
    Vivienne Parry, Anna Middleton
    Lancet 2017;389:1603–4 (22 April 2017)
  • Association of steroid 5α-reductase type 3 congenital disorder of glycosylation with early-onset retinal dystrophy
    Rachel L Taylor, Gavin Arno, James A Poulter
    JAMA Ophthalmol 2017;135:339–47 (1 April 2017)
  • Single-base substitutions in the CHM promoter as a cause of choroideremia
    Alina Radziwon, Gavin Arno, Dianna K Wheaton et al.
    Human Mutat 2017;38:704–15 (24 March 2017)
  • The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors
    Anna Middleton, Peter Marks, Anita Bruce et al.
    Eur J Hum Genet 2017;25:659–61 (22 March 2017)
  • The Human Phenotype Ontology in 2017
    Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad et al.
    Nucleic Acids Res 2017;45:D865–D876 (04 January 2017)

  2016

  • Making sense of big data in health research: towards an EU action plan
    Charles Auffray, Rudi Balling, Inês Barroso et al.
    Genome Med 2016;8:71 (23 June 2016)
  • Rare inherited skin diseases and the Genomics England 100,000 Genome Project
    J A McGrath
    Br J Dermatol 2016;174:257–8 (12 February 2016)
  • The dawn of genomic medicine: the role of the 100,000 Genomes Project in breast care management
    Julian Barwell, Corrina Powell, Helen Harrison
    Breast Cancer Manag 2016;5:7–11 (8 February 2016)
  • The 100,000 Genomes Project: what it means for paediatrics
    Blanche H Griffin, Lyn S Chitty, Maria Bitner-Glindzicz
    Arch Dis Child Educ Pract Ed 2017;102:105–7 (9 December 2016)

  2015

  • The DNA of a nation
    Vivien Marx
    Nature 2015;524:503–5 (27 August 2015)
  • Global implementation of genomic medicine: we are not alone
    Teri A. Manolio, Marc Abramowicz, Fahd Al-Mulla et al.
    Sci Transl Med 2015;7:290ps13 (03 June 2015)

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