195:, and infectious diseases. Participants give consent for their genome data to be linked to information about their medical condition and health records. The medical and genomic data is shared with researchers to improve knowledge of the causes, treatment, and care of diseases. The project has received over £300 million from public and private investment.
369:
affected by COVID-19. This data was compared with 15,000 other genomes from people who were only mildly affected. It was combined with data set which now includes more than 120,000 genomes (from the "100,000 Genomes" Project). The 100,000 Genomes
Project was referred to as the "incredibly important" pre-COVID reference set.
339:
The
Genomics England Clinical Interpretation Partnership (GeCIP) includes 2,500 UK and international clinicians and scientists from approximately 300 institutions in 24 countries. There are plans to increase this number. Researchers are organised in "domains" formed around particular conditions,
368:
The 100,000 Genomes
Project provided a pre-COVID reference set in the GenOMICC study on COVID-19. Genomics England worked in partnership with the GenOMICC consortium, led by the University of Edinburgh, to analyse the whole genome sequences of approximately 20,000 people who have been severely
725:
Wheway, Gabrielle; Genomics
England Research Consortium; Mitchison, Hannah M.; Ambrose, J. C.; Baple, E. L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J. M.; Boustred, C. R.; Caulfield, M. J.; Chan, G. C.; Craig, C. E. H.; Daugherty, L. C.; de, Burca A.; Devereau, A. (2019).
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In June 2020, Lifebit, a UK-based biotechnology company, was announced as the provider of the trusted research environment that will link the genomic data gathered as part of the 100,000 Genome
Project with academic research institutions.
306:
and ultimately back to participants; the first diagnoses from the
Project were returned to patients in spring 2015 and over 2,000 families' results have been returned to the NHS in the rare disease programme to date (July 2017).
284:. In total, the coordination of recruitment for the 100,000 Genome Project was overseen by 13 Genomic Medicine Centers that have been established across 85 NHS Trusts in England, Northern Ireland, and Scotland.
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As of 1 October 2018, the 100,000 Genomes
Project had completed the sequencing of 87,231 whole genomes in England and results are in the process of being returned to
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In July 2019, Genomics
England announced Data Release 7, which included the 100,000th whole genome made available to researchers.
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1157:(sequencing work for the 100K Genome Project is carried out by Illumina's technologies at a sequencing centre on the
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data in healthcare, and providing a platform for genomic research collaborations to add to the knowledge base for
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to oversee the project with the plan to focus on rare diseases, cancer, and infectious diseases announced by
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786:"Genomics England announces interpretation partners and expands industry engagement | Genomics England"
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728:"Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project"
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A 2019 review identified the initiative as an 'exemplar' in involving the public in genomic research.
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884:"Over 100,000 whole genome sequences now available for approved researchers | Genomics England"
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issued a statement of intent and is considering participating in the 100,000 Genomes
Project.
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969:"Genomics England launches next-generation research platform central to UK COVID-19 response"
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In
September 2015, Genomics England announced it had contracted with interpretation partners
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UK Government project that is sequencing whole genomes from National Health Service patients
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348:. The partnership is integrated with the NHS and the aims include improving the use of
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387: – Scientific endeavours to determine the complete genome sequence of an organism
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656:"100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report"
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996:"Lifebit Counting on New UK Partnerships to Develop, Validate Federated Data Model"
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536:"DNA tests to revolutionise fight against cancer and help 100,000 NHS patients"
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also joined the project with plans to start work the following year. In 2016,
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625:"Written Statement -Statement of Intent for Genomics and Precision Medicine"
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264:. The following medical centres joined the project a short time later:
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417:"Jeremy Hunt launches genomics body to oversee healthcare revolution"
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288:
105:
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Lacaze, Paul; Fransquet, Peter; Tiller, Jane; Nunn, Jack S. (2019).
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The 100,000 Genomes Project Pilot Investigators (11 November 2021).
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860:
Fergus Walsh: Faster diagnosis from 'transformational' gene project
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242:
911:"Public Involvement in Global Genomics Research: A Scoping Review"
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In December 2018, the full 100,000 genomes milestone was reached.
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295:. This is in addition to ongoing work with sequencing partner
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Genomics England Clinical Interpretation Partnership (GeCIP)
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Central Manchester University Hospitals NHS Foundation Trust
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1022:"Written evidence submitted by Genomics England (GEN0015)"
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in July 2013. The project was also made possible by the
1108:
Health Education England's Genomics Education programme
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in December 2012. The Government set up a new company
562:"Northern Ireland joins the 100,000 Genomes Project"
506:"£300m for UK 100,000 genomes project - PharmaTimes"
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Genomics_England § NHS_Genomic_Medicine_Centres
1074:"GenOMICC COVID-19 study | Genomics England"
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223:National Institute for Health and Care Research
55:National Institute for Health and Care Research
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252:The initial participants were recruited from
278:Moorfields Eye Hospital NHS Foundation Trust
1118:East of England NHS Genomic Medicine Centre
710:: CS1 maint: numeric names: authors list (
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1145:Genomics England GENE Consortium partners
1048:"Evidence on Genomics and genome-editing"
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595:"Scottish investment in genomic medicine"
274:Guy's and St Thomas' NHS Foundation Trust
1123:North Thames NHS Genomic Medicine Centre
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812:"The 100,000 Genomes Project by numbers"
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340:cancer types and research areas such as
262:Newcastle upon Tyne NHS Foundation Trust
102:Northern Ireland Genomic Medicine Centre
837:First children diagnosed in DNA project
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635:from the original on 13 September 2016
605:from the original on 14 September 2016
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282:Oxford University Hospitals NHS Trust
187:patients. The project is focusing on
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1002:from the original on 3 February 2023
818:from the original on 9 December 2018
516:from the original on 12 January 2024
445:Department of Health and Social Care
1080:from the original on 4 October 2021
792:from the original on 9 October 2016
647:
572:from the original on 19 August 2016
538:. UK Government. 10 December 2012.
475:"Data access, security and privacy"
381: – UK government-owned company
203:The project was first announced by
13:
455:from the original on 20 March 2016
258:University College London Partners
14:
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890:from the original on 24 June 2021
994:Versel, Neil (8 February 2022).
975:from the original on 15 May 2023
846:by James Gallagher published by
542:from the original on 3 June 2016
485:from the original on 5 June 2016
451:(Press release). UK Government.
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660:New England Journal of Medicine
504:McKee, Selina (1 August 2014).
415:Ramesh, Randeep (5 July 2013).
1185:Genetics in the United Kingdom
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254:Cambridge University Hospitals
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324:NHS Genomic Medicine Centres
304:NHS Genomic Medicine Centres
270:Great Ormond Street Hospital
99:Scottish Genomes Partnership
21:100K Pathogen Genome Project
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1135:13 Genomic Medicine Centres
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153:/the-100000-genomes-project
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915:Frontiers in Public Health
873:, accessed 5 December 2018
364:GenOMICC study on COVID-19
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133:July 2013 – December 2018
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1128:12 December 2018 at the
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745:10.3389/fgene.2019.00127
235:Health Education England
121:Medical Research Council
19:Not to be confused with
1205:National Health Service
865:5 December 2018 at the
850:News on 12 January 2016
396:The Cancer Genome Atlas
191:, some common types of
185:National Health Service
165:100,000 Genomes Project
151:/about-genomics-england
35:100,000 Genomes Project
1159:Wellcome Genome Campus
1150:Wellcome Genome Campus
1113:NHS England – Genomics
1215:Human genome projects
788:. 30 September 2015.
732:Frontiers in Genetics
672:10.1056/NEJMoa2035790
391:Cancer Genome Project
231:Public Health England
1180:Genetic epidemiology
814:. Genomics England.
629:The Welsh Government
247:the Welsh government
25:1000 Genomes Project
842:6 July 2018 at the
568:. 29 October 2015.
171:project managed by
167:is a now-completed
83:Project coordinator
1200:Molecular genetics
116:Cancer Research UK
111:The Wellcome Trust
869:5 December 2018,
666:(20): 1868–1880.
481:. 10 March 2015.
358:genetic disorders
205:UK Prime Minister
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576:8 September
227:NHS England
219:Jeremy Hunt
60:NHS England
1175:Gene tests
1169:Categories
1052:Committees
1026:Committees
1006:3 February
979:3 February
520:12 January
402:References
177:sequencing
43:Government
1084:4 October
937:2296-2565
822:2 October
754:1664-8021
680:0028-4793
354:phenotype
289:Congenica
106:NHS Wales
69:Reference
1210:Genomics
1155:Illumina
1126:Archived
1078:Archived
1000:Archived
973:Archived
955:31024880
888:Archived
863:Archived
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698:34758253
633:Archived
603:Archived
570:Archived
540:Archived
514:Archived
483:Archived
453:Archived
373:See also
350:genotype
335:Research
297:Illumina
243:Scotland
225:(NIHR),
175:that is
130:Duration
93:Partners
1058:25 June
1032:25 June
946:6467093
894:16 June
763:6421331
738:: 127.
689:7613219
199:History
181:genomes
138:Website
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546:26 May
489:6 June
459:26 May
293:Omicia
260:, and
233:, and
193:cancer
179:whole
183:from
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1008:2023
981:2023
951:PMID
933:ISSN
896:2021
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798:2016
768:PMID
750:ISSN
712:link
694:PMID
676:ISSN
641:2016
611:2016
578:2016
548:2016
522:2024
491:2016
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428:2014
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291:and
280:and
241:and
163:The
941:PMC
923:doi
848:BBC
758:PMC
740:doi
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149:.uk
147:.co
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