Erratum: The 100 000 Genomes Project: Bringing whole genome sequencing to the NHS (BMJ (Online) (2018) 316 (k1687) DOI: 10.1136/bmj.k1687);The 100 000 Genomes Project: Bringing whole genome sequencing to the NHS

BMJ (Online)

Volumn 361, Issue , 2018, Pages

  Turnbull, Clare ^a,d   Scott, Richard H ^a,e   Thomas, Ellen ^a,b   Jones, Louise ^a,c   Murugaesu, Nirupa ^a,f   Pretty, Freya Boardman ^a   Halai, Dina ^a   Baple, Emma ^a,g   Craig, Clare ^a   Hamblin, Angela ^a,h   Henderson, Shirley ^a,i   Patch, Christine ^a,b,j   O'Neill, Amanda ^a,k   Devereaux, Andrew ^a   Smith, Katherine ^a   Martin, Antonio Rueda ^a   Sosinsky, Alona ^a   McDonagh, Ellen M ^a   Sultana, Razvan ^a   Mueller, Michael ^a   Smedley, Damian ^a,c   Toms, Adam ^a   Dinh, Lisa ^a   Fowler, Tom ^a   Bale, Mark ^a,l   Hubbard, Tim ^a,j   Rendon, Augusto ^a,k   Hill, Sue ⁱ   Caulfield, Mark J ^a,c   more..

^a GENOMICS ENGLAND   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^c QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^d INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^g UNIVERSITY OF EXETER   (United Kingdom)

^h OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

ⁱ NATIONAL HEALTH SERVICE   (United Kingdom)

^j KING'S COLLEGE LONDON   (United Kingdom)

^k UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^l United Kingdom Department of Health   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACCESS TO INFORMATION; ARTICLE; CANCER DIAGNOSIS; CANCER GENETICS; CANCER TISSUE; CLINICAL RESEARCH; DIAGNOSTIC PROCEDURE; EVOLUTION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOMICS; HUMAN; INFORMATION PROCESSING; INTERNAL CONSISTENCY; MALIGNANT NEOPLASM; NATIONAL HEALTH SERVICE; PRIORITY JOURNAL; RARE DISEASE; STANDARDIZATION; TISSUE CHARACTERIZATION; UNITED KINGDOM; WHOLE GENOME SEQUENCING; GENETICS; NEOPLASM;

HUMANS; NEOPLASMS; RARE DISEASES; STATE MEDICINE; UNITED KINGDOM; WHOLE GENOME SEQUENCING;

EID: 85046014789     PISSN: 09598146     EISSN: 17561833     Source Type: Journal    
DOI: 10.1136/bmj.k1952     Document Type: Erratum

References (39)

1. Heather JM, Chain B. The sequence of sequencers: The history of sequencing DNA. Genomics 2016;107:1-8. 10.1016/j.ygeno.2015.11.003 26554401
2. Firth HV, Wright CFDDD Study. The Deciphering Developmental Disorders (DDD) study. Dev Med Child Neurol 2011;53:702-3. 10.1111/j.1469-8749.2011.04032.x 21679367
3. Sudlow C, Gallacher J, Allen N, et al. UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med 2015;12:e1001779. 10.1371/journal.pmed.1001779 25826379
4. International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 2004;431:931-45. 10.1038/nature03001 15496913
5. Lander ES, Linton LM, Birren B, et al. International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921. 10.1038/35057062 11237011
6. Hayden EC. Technology: the $1000 genome. Nature 2014;507:294-5. 10.1038/507294a 24646979
7. House of Commons Science and Technology Committee. Genomic medicine. 2010. https://hansard.parliament.uk/Lords/2010-06-09/debates/10060963000015/GenomicMedicineSAndTCommitteeReport
8. Chief Medical Officer. Annual report of the chief medical officer 2016: generation genome. 2017.
9. Human Genomics Strategy Group. Building on our inheritance: genomic technology in healthcare. 2012. https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment-data/file/213705/dh-132382.pdf
10. Lomas DA. Strategic priorities for 100 000 genomes project. 2013. https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment-data/file/210829/CMO-Science-priorities-letter-with-annexes.pdf.
11. Genomics England. The 100 000 Genomes Project protocol. 2015. https://www.genomicsengland.co.uk/100000-genomes-project-protocol
12. Rare Disease UK. What is a rare disease? https://www.raredisease.org.uk/what-is-a-raredisease/.
13. Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet 2018. [Epub ahead of print.] 10.1038/nrg.2018.12.
14. Department of Health. The UK strategy for rare diseases. DH, 2013.
15. International Rare Diseases Research Consortium. Policies and guidelines. 2013. http://www.irdirc.org/about-us/about/
16. Rare Diseases Translational Research Collaboration. 2014.http://www.nihr.ac.uk/about/rare-diseases-translational-research-collaboration.htm.
17. Lionel AC, Costain G, Monfared N, et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med 2018;20:435-43. 10.1038/gim.2017.119. 28771251
18. Wright CF, Fitzgerald TW, Jones WD, et al. DDD study. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet 2015;385:1305-14. 10.1016/S0140-6736(14)61705-0 25529582
19. Garraway LA, Lander ES. Lessons from the cancer genome. Cell 2013;153:17-37. 10.1016/j.cell.2013.03.002 23540688
20. Weinstein JN, Collisson EA, Mills GB, et al. Cancer Genome Atlas Research Network. The Cancer Genome Atlas Pan-Cancer analysis project. Nat Genet 2013;45:1113-20. 10.1038/ng.2764 24071849
21. Hudson TJ, Anderson W, Artez A, et al. International Cancer Genome Consortium. International network of cancer genome projects. Nature 2010;464:993-8. 10.1038/nature08987 20393554
22. Dancey JE, Bedard PL, Onetto N, Hudson TJ. The genetic basis for cancer treatment decisions. Cell 2012;148:409-20. 10.1016/j.cell.2012.01.014 22304912
23. Schmidt KT, Chau CH, Price DK, Figg WD. Precision oncology medicine: the clinical relevance of patient-specific biomarkers used to optimize cancer treatment. J Clin Pharmacol 2016;56:1484-99. 10.1002/jcph.765 27197880
24. Gagan J, Van Allen EM. Next-generation sequencing to guide cancer therapy. Genome Med 2015;7:80. 10.1186/s13073-015-0203-x 26221189
25. Jones S, Anagnostou V, Lytle K, et al. Personalized genomic analyses for cancer mutation discovery and interpretation. Sci Transl Med 2015;7:283ra53. 10.1126/scitranslmed.aaa7161 25877891
26. Petljak M, Alexandrov LB. Understanding mutagenesis through delineation of mutational signatures in human cancer. Carcinogenesis 2016;37:531-40. 10.1093/carcin/bgw055 27207657
27. Davies H, Glodzik D, Morganella S, et al. HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures. Nat Med 2017;23:517-25. 10.1038/nm.4292 28288110
28. O'Leary B, Turner NC. Science in focus: circulating tumour DNA as a liquid biopsy. Clin Oncol (R Coll Radiol) 2016;28:735-8. 10.1016/j.clon.2016.08.007. 27717550
29. Genomics England. PanelApp 2016. https://panelapp.extge.co.uk/crowdsourcing/PanelApp/.
30. Public Health England. National Cancer Registration and Analysis Service (NCRAS). 2018. https://www.ncras.nhs.uk/
31. Public Health England. Cancer outcomes and services dataset (COSD). 2018. http://www.ncin.org.uk/collecting-and-using-data/data-collection/cosd
32. Public Health England. National radiotherapy dataset (RTDS). 2018. http://www.ncin.org.uk/collecting-and-using-data/rtds
33. NHS Digital. Hospital Episode Statistics. 2018. https://digital.nhs.uk/data-services/hospitalepisode-statistics
34. Public Health England. Systemic anti-cancer therapy dataset (SACT). 2018. http://www.chemodataset.nhs.uk/home
35. Consensus Statement Diagnostic pathways for NHS cancer genomic sampling and analysis. https://www.genomicsengland.co.uk/information-for-gmc-staff/cancer-programme/cancer-programme-documentation/, 2017.
36. Köhler S, Doelken SC, Mungall CJ, et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res 2014;42:D966-74. 10.1093/nar/gkt1026 24217912
37. Ellard S, Baple EL, Owens M, et al. ACGS best practice guidelines for variant classification 2017. Association for Clinical Genetics Science, 2017.
38. NHS England. Improving outcomes through personalised medicine: working at the cutting edge of science to improve patients' lives. NHSE, 2016.
39. NHS England. Creating a genomic medicine service to lay the foundations to deliver personalised interventions and treatments. 2017. https://www.england.nhs.uk/wp-content/uploads/2017/03/board-paper-300317-item-6.pdf