Publications

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

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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