The Scottish Genomes Partnership

苏格兰基因组合作伙伴

• 批准号: MC_PC_15080
• 负责人: Timothy Aitman
• 金额: $ 254.84万
• 依托单位: University of Edinburgh
• 依托单位国家: 英国
• 项目类别: Intramural
• 财政年份: 2016
• 资助国家: 英国
• 起止时间: 2016 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=MC_PC_15080
• 关键词: Scottish; Genomes; Partnership

The genome is the complete set of genetic material in each of the cells of our body, inherited from our parents. Sometimes, changes (mutations) happen that cause disease. If someone has a disease, it’s now possible and affordable to read their genome to see if it might be caused by a mutation. If it has, scientists can use that information to understand the disease better, and perhaps one day treat or cure it. The UK's Department of Health (DH) set up its own company called Genomics England (GeL) to sequence the genomes of consenting families or individuals who suffer from rare genetic diseases and cancers. GeL has £100m from DH England to sequence 100,000 genomes. The MRC wants to work with the Devolved Governments of Northern Ireland, Scotland and Wales to help to develop in genome sequencing too, and to contribute to the 100,000 genomes project through GeL. We hope to help build a UK-wide partnership that can deliver better and faster results for patients.This award is the MRC’s investment in the Scottish Genomes Partnership (SGP). It partners funding of £4,000,000 from the Scottish Government, and up to £3,500,000 from Scottish Enterprise. Together, funds will be used to (1) support SGP's sequencing of 1000 genomes of people with rare diseases (and often also their families) and (2) to address the challenge of how to provide researchers with appropriate access to, and use of, complex data stored across more than one secure site.

基因组是从父母继承的我们身体每个细胞中的完整遗传物质集。有时，发生变化（突变）会导致疾病。如果某人患有疾病，现在可以阅读其基因组以查看是否可能是由于突变引起的。如果有的话，科学家可以使用这些信息更好地理解该疾病，也许有一天对其进行治疗或治愈。英国卫生部（DH）成立了自己的公司，称为英格兰基因组学（GEL），以对患有罕见遗传疾病和癌症的同意家庭或个人的基因组进行序列。凝胶从DH英格兰拥有1亿英镑的序列，序列为100,000个基因组。 MRC希望与北爱尔兰，苏格兰和威尔士的权力下放的政府一起工作，以帮助发展基因组测序，并通过GEL为100,000个基因组项目做出贡献。我们希望帮助建立在英国范围内的合作伙伴关系，该伙伴关系可以为患者带来更好，更快的结果。该奖项是MRC对苏格兰基因组伙伴关系（SGP）的投资。 IT合作从苏格兰政府提供了4,000,000英镑的资金，并从苏格兰企业那里获得了高达3,500,000英镑的资金。共同将资金用于（1）支持SGP对1000个罕见疾病（以及他们的家人）的测序，以及（2）来应对如何为研究人员提供适当访问和使用复杂数据的挑战，这些数据存储在一个以上的安全站点中。

项目成果

A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.

• DOI: 10.1016/j.ajhg.2018.07.002
• 发表时间: 2018-08-02
• 期刊: American journal of human genetics
• 影响因子: 9.8
• 作者: Evans DGR;van Veen EM;Byers HJ;Wallace AJ;Ellingford JM;Beaman G;Santoyo-Lopez J;Aitman TJ;Eccles DM;Lalloo FI;Smith MJ;Newman WG
• 通讯作者: Newman WG

Structural Variants at the BRCA1/2 Loci are a Common Source of Homologous Repair Deficiency in High-grade Serous Ovarian Carcinoma.

• DOI: 10.1158/1078-0432.ccr-20-4068
• 发表时间: 2021-06-01
• 期刊: Clinical cancer research : an official journal of the American Association for Cancer Research
• 作者: Ewing A;Meynert A;Churchman M;Grimes GR;Hollis RL;Herrington CS;Rye T;Bartos C;Croy I;Ferguson M;Lennie M;McGoldrick T;McPhail N;Siddiqui N;Dowson S;Glasspool R;Mackean M;Nussey F;McDade B;Ennis D;McMahon L;Matakidou A;Dougherty B;March R;Barrett JC;McNeish IA;Scottish Genomes Partnership;Biankin AV;Roxburgh P;Gourley C;Semple CA
• 通讯作者: Semple CA

Corrigendum to "Genetic epidemiology of motor neuron disease-associated variants in the Scottish population." [Neurobiol. Aging 51 (2017) 178.e11-178.e20].

• DOI: 10.1016/j.neurobiolaging.2017.04.019
• 发表时间: 2017-08
• 期刊: Neurobiology of aging
• 影响因子: 4.2
• 作者: Black HA;Leighton DJ;Cleary EM;Rose E;Stephenson L;Colville S;Ross D;Warner J;Porteous M;Gorrie GH;Swingler R;Goldstein D;Harms MB;Connick P;Pal S;Aitman TJ;Chandran S
• 通讯作者: Chandran S

Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland.

• DOI: 10.1007/s12687-021-00541-4
• 发表时间: 2022-10
• 期刊: JOURNAL OF COMMUNITY GENETICS
• 影响因子: 1.9
• 作者: Abbott, Michael;McKenzie, Lynda;Moran, Blanca Viridiana Guizar;Heidenreich, Sebastian;Hernandez, Rodolfo;Hocking-Mennie, Lynne;Clark, Caroline;Gomes, Joana;Lampe, Anne;Baty, David;McGowan, Ruth;Miedzybrodzka, Zosia;Ryan, Mandy
• 通讯作者: Ryan, Mandy