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.

Publications leveraging Genomics England data assets and Research Environment

2020

• Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor Raman Kumar, Elizabeth Palmer, Alison E. Gardner, et al. Frontiers in Molecular Neuroscience doi: 10.3389/fnmol.2020.00012 (11/02/2020)
• Human and mouse essentiality screens as a resource for disease gene discovery Pilar Cacheiro, Violeta Muñoz-Fuentes, Stephen A. Murray, et al. Nature Communications doi: 10.1038/s41467-020-14284-2 (31/01/2020)
• A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome Sara Cuvertino, Verity Hartill, Alice Colyer, et al. Genetics in Medicine doi: 10.1038/s41436-019-0743-3 (17/01/2020)

2019

• Clinical and genetic variability in children with partial albinism. Campbell P, Ellingford JM, Parry NRA, et al. Nature Scientific Reports doi: 10.1038/s41598-019-51768-8 (12/11/2019)
• Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2 Ying Hong, Sira Nanthapisal, Ebun Omoyinmi, et al. Frontiers in Immunologydoi: 10.3389/fimmu.2019.02589 (11/11/2019)
• Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice Pagnamenta, Alistair T; Heemeryck, Pierre; Hilary C Martin, et al. Human Molecular Genetics doi: 10.1093/hmg/ddz186 (31/07/2019)
• Germline selection shapes the landscape of human mitochondrial DNA Wei, Wei; Chinnery, Patrick; et al Science doi: 10.1126/science.aau6520 (01/04/2019)
• Validating Whole Genome Sequencing (WGS) for clinical use in AML & ALL S. Henderson, A. Sosinsky, A. Hamblin, et al. British Journal of Haematology doi: 10.1111/bjh.15854 (27/03/2019)
• Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project Wheway, Gabrielle; Mitchison, Hannah H. Frontiers in Genetics doi: 10.3389/fgene.2019.00569 (11/03/2019)
• Whole-genome sequencing of rare disease patients in a national healthcare system Ouwehand, Willem H bioRxiv – pre-publication doi: 10.1101/507244 (01/01/2019)

2018

• Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project Robbe P., Popitsch N., Knight S.J.L., et al. Genet Med doi: 10.1038/gim.2017.241 (20/10/2018)
• Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia Jamie M Ellingford, Glenda Beaman, Kevin Webb, et al. Bio Rxiv doi: 10.1101/438838 (01/10/2018)
• 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 J. L. Knight, et al. British Journal of Haematology doi: 10.1111/bjh.15406 (29/05/2018)
• Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Gräf S., Haimel M., Bleda M., et al. Nature Communications doi: 10.1038/s41467-018-03672-4 (12/04/2018)

2017

• Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females. Alessia Fiorentino Kaoru Fujinami Gavin Arno et al. Human Mutation doi: 10.1002/humu.23349 (02/10/2017)

Other Publications about the 100,000 Genomes Project

2020

• Effect of Different Proteinase K Digest Protocols and Deparaffinization Methods on Yield and Integrity of DNA Extracted From Formalin-fixed, Paraffin-embedded Tissue Zoe Frazer, Changyoung Yoo, Manveer Sroya, et al. Journal of Histochemistry & Cytochemistry (11/02/2020)
• Using genomics to uncover the secrets behind inherited diseases Dr Khor Ing Wei MediCine_Issue33 (07/02/2020)
• Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study Celine Lewis, Saskia Sanderson, Melissa Hill, et al. European Journal of Human Genetics doi: 10.1038/s41431-020-0575-2 (30/01/2020)
• Evidence for penetrance in patients without a family history of disease: a systematic review Heather Turner, Leigh Jackson European Journal of Human Genetics doi: 10.1038/s41431-019-0556-5 (14/01/2020)
• Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study Lisa M. Ballard, Rachel H. Horton, Sandi Dheensa, et al. European Journal of Human Genetics doi: 10.1038/s41431-019-0570-7 (09/01/2020)

2019

• Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case A. H. Sabir, G. Ryan, Z. Mohammed et al. Hindawi Case Reports in Genetics doi: 10.1155/2019/1398250 (22/12/2019)
• International perspectives on the implementation of reproductive carrier screening Martin B. Delatycki, Fowzan Alkuraya, Alison Archibald, et al. Prenatal Diagnosis doi: 10.1002/pd.5611 (27/11/2019)
• Should doctors have a legal duty to warn relatives of their genetic risks? Middleton A, Milne R, Robarts L, et al. The Lancet doi: 10.1016/ S0140-6736(19)32941-1 (25/11/2019)
• Using the Findings of a National Survey to Inform the Work of England’s Genomics Education Programme. Simpson, S., Seller, A. and Bishop, M. Genomics Education Programme Frontiers in Genetics doi: 10.3389/fgene.2019.01265 (18/11/2019)
• Systematic review of differential methylation in rare ophthalmic diseases Katie Kerr, Helen McAneney, Laura Smyth, et al. British Medical Journal Open Opthalmology doi: 10.1136/ bmjophth-2019-000342 (13/11/2019)
• Clinical-Grade Whole Genome Sequencing Reproduces FISH Cytogenetics and Provides Actionable Data in Newly Diagnosed Myeloma – a Pilot Study from the UK 100,000 Genomes Project Oliver Lomas, Sarah Gooding, Karthik Ramasamy, et al. Blood doi: 10.1182/blood-2019-125145 (13/11/2019)
• Genomic Education at Scale: The Benefits of Massive Open Online Courses for the Healthcare Workforce Michelle Bishop, Edward Miller, Amelia McPherson, et al. Genomics Education Programme Frontiers in Genetics doi: 10.3389/fgene.2019.01094 (13/11/2019)
• Ensuring Best Practice in Genomic Education and Evaluation: A Program Logic Approach Amy Nisselle, Melissa Martyn, Helen Jordan, et al Genomics Education Programme Frontiers in Genetics doi: 10.3389/fgene.2019.01057 (08/11/2019)
• 100,000 genomes project: Integrating whole genome sequencing (WGS) data into clinical practice A Rueda-Martin, T Fowler, M Caulfield, et al. Annals of Oncology doi: 10.1093/annonc/mdz413.006 (07/11/2019)
• A retrospective analysis of 66 colorectal cancer cases from Guy’s and St Thomas’ (GSTT) Molecular Tumour Board M Kapiris, D Josephs, A Kulkarni, et al. Annals of Oncology doi: 10.1093/annonc/mdz413.034 (07/11/2019)
• Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project. Sanderson S.C., Hill M., Searle B., et al. bmjopen doi: 10.1136/bmjopen-2019-029699 (03/11/2019)
• PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels Antonio Rueda Martin, Ellen Thomas, Richard H. Scott, et al. Nature Genetics doi: 10.1038/s41588-019-0528-2 (01/11/2019)
• SEPATH: benchmarking the search for pathogens in human tissue whole genome sequence data leads to template pipelines. Gihawi A, Rallapalli G, Hurst R, et al. BMC Genome Biology doi: 10.1186/s13059-019-1819-8 (22/10/2019)
• Genomic medicine: time for health-care transformation.  Richard Scott, Mark Caulfield, Tom Fowler The Lancet doi: 10.1016/S0140-6736(19)31796-9. (05/08/2019)
• Development of a measure of genome sequencing knowledge for young people: The kids‐KOGS Celine Lewis , Bao S. Loe, Chris Sidey‐Gibbons and Lyn S. Chitty  Genomics Education Programme Clinical Genetics doi: 10.1111/cge.13607 (19/07/2019)
• The new genomic medicine service and implications for patients Barwell J, Snape K, Wedderburn S Clinical Medicine doi: 10.7861/clinmedicine.19-4-273 (01/07/2019)
• Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare Katherine S Josephs, Alison Berner, Angela George, et al. Genomics Education Programme Clinical Medicine doi: 10.7861/clinmedicine.19-4-269 (01/07/2019)
• Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis Caroline Pearce, Emma Goettke, Nina Hallowell, et al. Genetics in Medicine doi: 10.1038/s41436-019-0579-x (12/06/2019)
• Point of View: An evolution from genetic counselling to genomic counselling. Middleton A, Patch C European Journal of Medical Genetics doi: 10.1016/j.ejmg.2019.04.010 (13/04/2019)
• Pursuing parity: genetic tests for psychiatric conditions in the UK National Health Service. Curtis D, Adlington K, Bhui KS The British Journal of Psychiatry doi: 10.1192/bjp.2019.48 (22/03/2019)
• Integrating Genomics into Healthcare: A Global Responsibility. Stark Z , Dolman L, Ozenberger B, et al. American Journal of Human Genetics doi: 10.1016/j.ajhg.2018.11.014 (03/01/2019)
• The Network of Cancer Genes (NCG): a comprehensive catalogue of known and candidate cancer genes from cancer sequencing screens Dimitra Repana, , Joel Nulsen, Lisa Dressler, et al. Genomics Education Programme Genome Biology doi: 10.1186/s13059-018-1612-0 (03/01/2019)
• Hereditary Breast and Ovarian Cancer Testing in the Genomic Era. Greville-Heygate, S. L., Eccles, D. M. and Side, L. E. Genomics Education Programme JAMA Oncology doi: 10.1001/jamaoncol.2018.3034 (01/01/2019)

2018

• Fresh Tissue Handling Pathway For The 100,000 Genomes Project Pathology In Practice (01/12/2018)
• Fostering trust in healthcare: Participants’ experiences, views, and concerns about the 100,000 genomes project. Dheensa S, Lucassen A, Fenwick A European Journal of Medical Genetics doi: 10.1016/j.ejmg.2018.11.024. (29/11/2018)
• Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study. Sanderson S, Lewis C, Hill M, et al. GENETICS in MEDICINE doi: 10.1038/s41436-018-0310-3 (01/10/2018)
• DNA Sequencing Predicts 1st-Line Tuberculosis Drug Susceptibility Profiles Allix-Béguec C, Arandjelovic I, Bi L, et al. The New England Journal of Medicine doi: 10.1056/NEJMoa1800474 (26/09/2018)
• 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 (11/09/2018)
• A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.Evans DGR, van Veen EM, Byers HJ, et al. Genomics Education Programme American Journal of Human Genetics doi: 10.1016/j.ajhg.2018.07.002.(02/08/2018)
• 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 (20/06/2018)
• The 100 000 Genomes Project: feeding back to patients Celia Moss, Aaron Wernham The British Medical Journal doi: 10.1136/bmj.k2441 (05/06/2018)
• The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. Turnbull C, Scott RH, Thomas E, et al. The British Medical Journal doi: 10.1136/bmj.k1687. (24/04/2018)
• Tensions in ethics and policy created by National Precision Medicine Programs Jusaku Minari, Kyle B. Brothers, Michael Morrison Human Genomics doi: 10.1186/s40246-018-0151-9 (17/04/2018)
• Time for change: a new training programme for morpho-molecular pathologists? Moore DA, Young CA, Morris HT, et al. Journal of Clinical Pathology doi: 10.1136/jclinpath-2017-204821 (07/04/2018)
• Genetic counselling in the era of genomic medicine  Anna Middleton, Christine Patch British Medical Bulletin doi: 10.1093/bmb/ldy008 (02/04/2018)
• Genomics—an aid to diagnosis not a replacement
  Ingrid Torjesen BMJ 2018;360:k1267 (23/03/2018)
• Towards a national genomics medicine service: the challenges facing clinical-research hybrid practices and the case of the 100 000 genomes project Sandi Dheensa, Gabrielle Samuel, Anneke M Lucassen & Bobbie Farsides Journal of Medical Ethics doi: 10.1136/medethics-2017-104588 (01/03/2018)
• Introducing whole-genome sequencing into routine cancer care: the Genomics England 100 000 Genomes Project C Turnbull Annals of Oncology doi: 10.1093/annonc/mdy054 (15/02/2018)

2017

• Genomics England’s implementation of its public engagement strategy: Blurred boundaries between engagement for the United Kingdom’s 100,000 Genomes project and the need for public support. Samuel GN, Farsides B Public Understanding of Science doi: 10.1177/0963662517747200 (14/12/2017)
• A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations Elizabeth E. Palmer, Raman Kumar, Christopher T. Gordon, et al. American Journal of Human Genetics doi: 10.1016/j.ajhg.2017.10.009 (07/12/2017)
• The rise of the genome and personalised medicine
  Helen K Brittain, Richard Scott, Ellen Thomas Clin Med 2017;17(6):545–51 (01/12/2017)
• 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)
• Public trust and ‘ethics review’ as a commodity: the case of Genomics England Limited and the UK’s 100,000 genomes project Gabrielle Natalie Samuel, Bobbie Farsides Medical Health Care and Philosophy doi: 10.1007%2Fs11019-017-9810-1 (30/10/2017)
• “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project. Ormondroyd E, Mackley MP, Blair E, et al. Genetic Medicine doi: 10.1038/gim.2017.157 (26/10/2017)
• The UK’s 100,000 Genomes Project: manifesting policymakers’ expectations. Samuel GN, Farsides B New Genet Society doi: 10.1080/14636778.2017.1370671 (02/09/2017)
• Commit to talks on patient data and public health
  Vivienne ParryNature 2017;548:137 (08 August 2017)
• HGVA: the Human Genome Variation Archive. Lopez J, Coll J, Haimel M, et al. Nucleic Acids Research doi: 10.1093/nar/gkx445. (23/05/2017)
• Public health and precision medicine share a goal. Vaithinathan AG & Asokan V Journal Evid Based Med doi: 10.1111/jebm.12239. (10/05/2017)
• From Rosalind Franklin to Barack Obama: Data Sharing Challenges and Solutions in Genomics and Personalised Medicine. Lawler M & Maughan T The New Bioethics doi: 10.1080/20502877.2017.1314883 (23/04/2017)
• Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study Elizabeth Ormondroyd, Michael P Mackley, Edward Blair, et al. European Journal of Human Genetics doi: 10.1038/ejhg.2017.37 (22/04/2017)
• 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. European Journal of Human Genetics doi: 10.1038/ejhg.2017.28 (22/04/2017)
• Socialising the genome
  Vivienne Parry, Anna Middleton Lancet 2017;389:1603–4 (22/04/2017)
• The 100 000 Genomes Project: What it means for paediatrics Blanche H Griffin, Lyn S Chitty, & Maria Bitner-Glindzicz rchives of Disease in Childhood – Education and Practice doi: 10.1136/archdischild-2016-311029 (01/04/2017)
• 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 (01/04/2017)
• Post-genomic behavioral genetics: From revolution to routine. Ashbrook DG, Mulligan MK, Williams RW Genes, Brain and Behaviour doi: 10.1111/gbb.12441 (17/03/2017)
• Single‐base substitutions in the CHM promoter as a cause of choroideremia Alina Radziwon, Gavin Arno, Dianna K. Wheaton, et al. Human Mutation doi: 10.1002/humu.23212 (08/03/2017)
• Public-Private Partnerships in Cloud-Computing Services in the Context of Genomic Research. Granados Moreno P, Joly Y & Knoppers BM Front Med doi: 10.3389/fmed.2017.00003 (20/01/2017)
• Update: looking beyond the 100,000 Genome Project Susanne B Haga PERSONALIZED MEDICINE doi: 10.2217/pme-2016-0101 (19/01/2017)
• The Human Phenotype Ontology in 2017
  Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad et al. Nucleic Acids Res 2017;45:D865–D876 (04/01/2017)
• Predicting the Pathogenic Impact of Sequence Variation in the Human Genome. Rogers MF, Shihab HA, Ferlaino M, et al. Studies in Health Technology and Informatics doi: 10.3233/978-1-61499-753-5-91 (01/01/2017)

2016

• Pulmonary fibrosis in the era of stratified medicine Susan K Mathai, Chad A Newton, David A Schwartz & Christine Kim Garcia Thorax doi: 10.1136/thoraxjnl-2016-209172 (31/10/2016)
• EthicsandGenetics: organizational profile Edward Hockings PERSONALIZED MEDICINE doi: 10.2217/pme-2016-0049 (01/08/2016)
• 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 (23/06/2016)
• Accelerating the Development and Validation of New Value-Based Diagnostics by Leveraging Biobanks. Schneider D Public Health Genomics doi: 10.1159/000446534. (02/06/2016)
• Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study. Warren-Gash C, Kroese M, Burton H & Pharoah P Hereditary Cancer Clinical Practice doi: 10.1186/s13053-016-0052-7 (01/06/2016)
• The 100 000 Genomes Project Mark Peplow The British Medical Journal doi: 10.1136/bmj.i1757 (13/04/2016)
• Phasing for medical sequencing using rare variants and large haplotype reference panels. Sharp K, Kretzschmar W, Delaneau O and Marchini J Bioinformatics doi: 10.1093/bioinformatics/btw065 (27/02/2016)
• Rare inherited skin diseases and the Genomics England 100 000 Genome Project. McGrath JA. The British Journal of Dermatology DOI: 10.1111/bjd.14362 (17/02/2016)
• 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 (08/02/2016)

2015

• Population genetic testing for cancer susceptibility: founder mutations to genomes. Foulkes WD,  Turnbull C & Knoppers BM Nature Reviews Clinical Oncology doi: 10.1038/nrclinonc.2015.173 (20/10/2015)
• The DNA of a nationVivien MarxNature 2015;524:503–5 (27/08/2015)
• 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 (03/06/2015)
• UK gears up to decode 100 000 genomes from NHS patients NayanahSiva The Lancet doi: 10.1016/S0140-6736(14)62453-3 (16/01/2015)
• Surgery in the era of the ‘omics revolution. Beggs AD & Dilworth MP The British Journal of Surgery doi: 10.1002/bjs.9722. (10/01/2015)

2013

• Genomes of 100,000 people will be sequenced to create an open access research resource Ingrid Torjesen The British Medical Journal doi: 10.1136/bmj.f6690  (07/11/2013)