ISCF HDRUK DIH Sprint Exemplar: Cloud-based integration of phenotype and genotype data for rare disease research

ISCF HDRUK DIH Sprint 示例：基于云的罕见疾病研究表型和基因型数据集成

• 批准号: MC_PC_18030
• 负责人: John Bradley
• 金额: $ 50.89万
• 依托单位: Cambridge University Hospitals NHS Foundation Trust
• 依托单位国家: 英国
• 项目类别: Intramural
• 财政年份: 2019
• 资助国家: 英国
• 起止时间: 2019 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=MC_PC_18030
• 关键词: ISCF; HDRUK; DIH; Sprint; Exemplar

One in 17 people have a rare disease. Rare diseases can be extremely difficult to diagnose, but they often have an unidentified genetic cause. Recent advances in clinical imaging, pathology, and genomic technologies have led to remarkable progress in understanding disease - particularly rare diseases. However, the power of these technologies cannot be fully realised until the immense volume of data generated can be integrated with NHS data, then analysed by researchers in a secure environment that protects the privacy of individuals.Working across the NHS, academia and industry we will use existing tools to transfer data from NHS Trusts to a secure environment that interfaces with the NHS network and shares data with Public Health England. NHS information will then be combined with research data in a cloud-based platform. Initially, we will involve patients with rare diseases recruited to the NIHR BioResource; a national resource of volunteers who have already provided consent that information retrieved from their health records can be used for medical research. This will create a rich research resource with the potential to transform our understanding of rare genetic disorders, drive improvements in diagnosis and management, and provide proof of principle for use in other diseases.

十七人中就有一人患有罕见疾病。罕见疾病可能极难诊断，但它们通常有不明的遗传原因。临床影像、病理学和基因组技术的最新进展使人们在了解疾病（尤其是罕见疾病）方面取得了显着进展。然而，只有将生成的大量数据与 NHS 数据集成，然后由研究人员在保护个人隐私的安全环境中进行分析，这些技术的威力才能得到充分发挥。通过与 NHS、学术界和行业的合作，我们将使用现有工具将数据从 NHS 信托传输到与 NHS 网络接口并与英国公共卫生局共享数据的安全环境。然后，NHS 信息将与基于云的平台中的研究数据相结合。最初，我们将招募到 NIHR BioResource 的罕见病患者；一个由志愿者组成的国家资源，这些志愿者已经同意从他们的健康记录中检索到的信息可以用于医学研究。这将创造丰富的研究资源，有可能改变我们对罕见遗传性疾病的理解，推动诊断和管理的改进，并为其他疾病的使用提供原理证明。

项目成果

Whole-genome sequencing of patients with rare diseases in a national health system.

• DOI: 10.1038/s41586-020-2434-2
• 发表时间: 2020-07
• 期刊: Nature
• 影响因子: 64.8
• 作者: Turro E;Astle WJ;Megy K;Gräf S;Greene D;Shamardina O;Allen HL;Sanchis-Juan A;Frontini M;Thys C;Stephens J;Mapeta R;Burren OS;Downes K;Haimel M;Tuna S;Deevi SVV;Aitman TJ;Bennett DL;Calleja P;Carss K;Caulfield MJ;Chinnery PF;Dixon PH;Gale DP;James R;Koziell A;Laffan MA;Levine AP;Maher ER;Markus HS;Morales J;Morrell NW;Mumford AD;Ormondroyd E;Rankin S;Rendon A;Richardson S;Roberts I;Roy NBA;Saleem MA;Smith KGC;Stark H;Tan RYY;Themistocleous AC;Thrasher AJ;Watkins H;Webster AR;Wilkins MR;Williamson C;Whitworth J;Humphray S;Bentley DR;NIHR BioResource for the 100,000 Genomes Project;Kingston N;Walker N;Bradley JR;Ashford S;Penkett CJ;Freson K;Stirrups KE;Raymond FL;Ouwehand WH
• 通讯作者: Ouwehand WH

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

• DOI: 10.1056/nejmoa2035790
• 发表时间: 2021-11-11
• 期刊: The New England journal of medicine
• 作者: 100,000 Genomes Project Pilot Investigators;Smedley D;Smith KR;Martin A;Thomas EA;McDonagh EM;Cipriani V;Ellingford JM;Arno G;Tucci A;Vandrovcova J;Chan G;Williams HJ;Ratnaike T;Wei W;Stirrups K;Ibanez K;Moutsianas L;Wielscher M;Need A;Barnes MR;Vestito L;Buchanan J;Wordsworth S;Ashford S;Rehmström K;Li E;Fuller G;Twiss P;Spasic-Boskovic O;Halsall S;Floto RA;Poole K;Wagner A;Mehta SG;Gurnell M;Burrows N;James R;Penkett C;Dewhurst E;Gräf S;Mapeta R;Kasanicki M;Haworth A;Savage H;Babcock M;Reese MG;Bale M;Baple E;Boustred C;Brittain H;de Burca A;Bleda M;Devereau A;Halai D;Haraldsdottir E;Hyder Z;Kasperaviciute D;Patch C;Polychronopoulos D;Matchan A;Sultana R;Ryten M;Tavares ALT;Tregidgo C;Turnbull C;Welland M;Wood S;Snow C;Williams E;Leigh S;Foulger RE;Daugherty LC;Niblock O;Leong IUS;Wright CF;Davies J;Crichton C;Welch J;Woods K;Abulhoul L;Aurora P;Bockenhauer D;Broomfield A;Cleary MA;Lam T;Dattani M;Footitt E;Ganesan V;Grunewald S;Compeyrot-Lacassagne S;Muntoni F;Pilkington C;Quinlivan R;Thapar N;Wallis C;Wedderburn LR;Worth A;Bueser T;Compton C;Deshpande C;Fassihi H;Haque E;Izatt L;Josifova D;Mohammed S;Robert L;Rose S;Ruddy D;Sarkany R;Say G;Shaw AC;Wolejko A;Habib B;Burns G;Hunter S;Grocock RJ;Humphray SJ;Robinson PN;Haendel M;Simpson MA;Banka S;Clayton-Smith J;Douzgou S;Hall G;Thomas HB;O'Keefe RT;Michaelides M;Moore AT;Malka S;Pontikos N;Browning AC;Straub V;Gorman GS;Horvath R;Quinton R;Schaefer AM;Yu-Wai-Man P;Turnbull DM;McFarland R;Taylor RW;O'Connor E;Yip J;Newland K;Morris HR;Polke J;Wood NW;Campbell C;Camps C;Gibson K;Koelling N;Lester T;Németh AH;Palles C;Patel S;Roy NBA;Sen A;Taylor J;Cacheiro P;Jacobsen JO;Seaby EG;Davison V;Chitty L;Douglas A;Naresh K;McMullan D;Ellard S;Temple IK;Mumford AD;Wilson G;Beales P;Bitner-Glindzicz M;Black G;Bradley JR;Brennan P;Burn J;Chinnery PF;Elliott P;Flinter F;Houlden H;Irving M;Newman W;Rahman S;Sayer JA;Taylor JC;Webster AR;Wilkie AOM;Ouwehand WH;Raymond FL;Chisholm J;Hill S;Bentley D;Scott RH;Fowler T;Rendon A;Caulfield M
• 通讯作者: Caulfield M

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

• DOI: 10.1016/j.jaci.2019.11.051
• 发表时间: 2020-10
• 期刊: The Journal of allergy and clinical immunology
• 作者: Lorenzini T;Fliegauf M;Klammer N;Frede N;Proietti M;Bulashevska A;Camacho-Ordonez N;Varjosalo M;Kinnunen M;de Vries E;van der Meer JWM;Ameratunga R;Roifman CM;Schejter YD;Kobbe R;Hautala T;Atschekzei F;Schmidt RE;Schröder C;Stepensky P;Shadur B;Pedroza LA;van der Flier M;Martínez-Gallo M;Gonzalez-Granado LI;Allende LM;Shcherbina A;Kuzmenko N;Zakharova V;Neves JF;Svec P;Fischer U;Ip W;Bartsch O;Barış S;Klein C;Geha R;Chou J;Alosaimi M;Weintraub L;Boztug K;Hirschmugl T;Dos Santos Vilela MM;Holzinger D;Seidl M;Lougaris V;Plebani A;Alsina L;Piquer-Gibert M;Deyà-Martínez A;Slade CA;Aghamohammadi A;Abolhassani H;Hammarström L;Kuismin O;Helminen M;Allen HL;Thaventhiran JE;Freeman AF;Cook M;Bakhtiar S;Christiansen M;Cunningham-Rundles C;Patel NC;Rae W;Niehues T;Brauer N;Syrjänen J;Seppänen MRJ;Burns SO;Tuijnenburg P;Kuijpers TW;NIHR BioResource;Warnatz K;Grimbacher B;NIHR BioResource
• 通讯作者: NIHR BioResource

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

出版商更正：散发性原发性免疫缺陷队列的全基因组测序。

• DOI: 10.1038/s41586-020-2556-6
• 发表时间: 2020
• 期刊: Nature
• 影响因子: 64.8
• 作者: Thaventhiran JED