Exploiting the protein-protein interaction network to identify common genetic variants associated with complex diseases
Exploiting the protein-protein interaction network to identify common genetic variants associated with complex diseases
批准号:
MR/K021613/1
负责人:
Alessia David
金额:
$47.7万
依托单位:
依托单位国家:
英国
项目类别:
Fellowship
财政年份:
2013
资助国家:
英国
项目状态:
已结题
起止时间:
2013 至 --
中文摘要
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英文摘要
Thanks to recent advances in technology, it is nowadays possible to analyse our genetic material, the DNA. The DNA of two persons differs by approximately 4.5 million small genetic variants, which are the likely cause of the different predisposition to important diseases such as cancer, diabetes and heart disorders. It is, thus, important to understand which of these numerous variants are responsible for disease and the different response to therapies. This cannot be achieved with traditional biology experiments, but requires the use of complex computer algorithms. This project aims at developing such a computer program, which combines biological, mathematical and statistical tools with the vast amount of genetic and biological information available on the internet and the power of modern computers. In particular, the proposed study aims to evaluate the effect of genetic variants on health, by studying how these affect the structure and interaction between proteins, thus, causing disease. We will focus on cardiovascular disorders, diabetes, obesity and cancer which affect millions of people in the UK alone, but the method created will be applicable to any human disease. This computer program will be able to identify potentially damaging DNA variations and will represent an invaluable tool for researchers around the world who are engaged in the effort of understanding and treating diseases.
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Mutations in IGSF10 cause self-limited delayed puberty
IGSF10突变导致自限性青春期延迟
DOI:
10.1530/endoabs.39.oc5.1
发表时间:
2015
期刊:
Endocrine Abstracts
影响因子:
--
作者:
[Howard S]
通讯作者:
Howard S
DOI:
10.1186/s13073-015-0212-9
发表时间:
2015-09-01
期刊:
Genome medicine
影响因子:
12.3
作者:
[Cornish AJ, Filippis I, David A, Sternberg MJ]
通讯作者:
Sternberg MJ
DOI:
10.15252/emmm.201606250
发表时间:
2016-06
期刊:
EMBO molecular medicine
影响因子:
11.1
作者:
[Howard SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr HL, Metherell LA, Sternberg MJ, Cabrera CP, Warren HR, Barnes MR, Quinton R, de Roux N, Young J, Guiochon-Mantel A, Wehkalampi K, André V, Gothilf Y, Cariboni A, Dunkel L]
通讯作者:
Dunkel L
Role of IGSF10 mutations in self-limited delayed puberty
IGSF10突变在自限性青春期延迟中的作用
DOI:
10.1016/s0140-6736(16)00401-3
发表时间:
2016
期刊:
The Lancet
影响因子:
--
作者:
[Howard S]
通讯作者:
Howard S
DOI:
10.1210/jc.2017-02147
发表时间:
2018-02-01
期刊:
The Journal of clinical endocrinology and metabolism
影响因子:
--
作者:
[Howard SR, Guasti L, Poliandri A, David A, Cabrera CP, Barnes MR, Wehkalampi K, O'Rahilly S, Aiken CE, Coll AP, Ma M, Rimmington D, Yeo GSH, Dunkel L]
通讯作者:
Dunkel L
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