Medical and Regulatory Genomics

医学和监管基因组学

• 批准号: MC_UU_00007/16
• 负责人: Colin Semple
• 金额: $ 190.62万
• 依托单位: University of Edinburgh
• 依托单位国家: 英国
• 项目类别: Intramural
• 财政年份: 2018
• 资助国家: 英国
• 起止时间: 2018 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=MC_UU_00007%2F16
• 关键词: Medical; Regulatory; Genomics

The genes embedded in your genome have complex patterns of activity and particular constellations of genes must be active in particular cells and at particular times for biological processes, such as embryonic development, to conclude successfully. Our group is interested in the fundamental biology of gene regulation: when, how and why genes are turned on and off. We advance understand of the mechanisms underlying gene regulation, using computational analyses of datasets measuring the activities of many thousands of genes. This can provide new insights into human evolution itself, and also helps us to interpret disease processes with disrupted regulation, such as cancers and developmental disorders. Human genomes vary at millions of DNA sites between individuals, but often we do not know which variants matter most to our biology. Ultimately we want to develop predictive models, based upon our knowledge of gene regulation, that help us to forecast the effects of variants in health and disease.

嵌入您基因组中的基因具有复杂的活动模式，特定的基因群必须在特定的细胞中和特定的时间活跃，才能使胚胎发育等生物过程成功结束。我们的团队对基因调控的基本生物学感兴趣：基因何时、如何以及为什么被打开和关闭。我们使用测量数千个基因活动的数据集的计算分析来推进对基因调控机制的理解。这可以为人类进化本身提供新的见解，也有助于我们解释调控中断的疾病过程，如癌症和发育障碍。人类基因组在个体之间有数百万个DNA位点存在差异，但我们通常不知道哪些变异对我们的生物学最重要。最终，我们希望根据我们对基因调控的了解开发预测模型，帮助我们预测变异对健康和疾病的影响。

项目成果

Modeling double strand break susceptibility to interrogate structural variation in cancer

• DOI: 10.1186/s13059-019-1635-1
• 发表时间: 2019-02-08
• 期刊: GENOME BIOLOGY
• 影响因子: 12.3
• 作者: Ballinger, Tracy J.;Bouwman, Britta A. M.;Semple, Colin A.
• 通讯作者: Semple, Colin A.

Functional brain defects in a mouse model of a chromosomal t(1;11) translocation that disrupts DISC1 and confers increased risk of psychiatric illness.

• DOI: 10.1038/s41398-021-01256-3
• 发表时间: 2021-02-19
• 期刊: Translational psychiatry
• 影响因子: 6.8
• 作者: Bonneau M;Sullivan STO;Gonzalez-Lozano MA;Baxter P;Gautier P;Marchisella E;Hardingham NR;Chesters RA;Torrance H;Howard DM;Jansen MA;McMillan M;Singh Y;Didier M;Koopmans F;Semple CA;McIntosh AM;Volkmer H;Loos M;Fox K;Hardingham GE;Vernon AC;Porteous DJ;Smit AB;Price DJ;Kirsty Millar J
• 通讯作者: Kirsty Millar J

Pervasive lesion segregation shapes cancer genome evolution.

• DOI: 10.1038/s41586-020-2435-1
• 发表时间: 2020-07-01
• 期刊: Nature
• 影响因子: 64.8
• 作者: Aitken, Sarah J;Anderson, Craig J;Taylor, Martin S
• 通讯作者: Taylor, Martin S

IMPROVE-DD: Integrating Multiple Phenotype Resources Optimises Variant Evaluation in genetically determined Developmental Disorders

IMPROVE-DD：整合多种表型资源优化遗传决定的发育障碍的变异评估

• DOI: 10.1101/2022.05.20.22275135
• 发表时间: 2022
• 作者: Aitken S

Breaking point: the genesis and impact of structural variation in tumours.

• DOI: 10.12688/f1000research.16079.1
• 发表时间: 2018-01-01
• 期刊: F1000Research
• 作者: Ewing, Ailith;Semple, Colin
• 通讯作者: Semple, Colin