基本信息
浏览量:17
职业迁徙
个人简介
I am a statistical geneticist with wide ranging interests but am particularly interested in statistical methods development that ultimately facilitates predicting phenotype from genotype. Predicting phenotypes from genotypes is a central goal of personalized medicine, and if done accurately would have major benefits for human health. Increasingly, whole genome sequencing is used to identify pathogenic and hence clinically relevant mutations for patients with Mendelian diseases. However, assessment of risk among individuals without high impact variants, or in the presence of an incompletely penetrant variant, is lacking. Heritability studies suggest common variants contribute substantially to many rare and common diseases with large public health costs, and simulation studies suggest that large genome-wide association studies and polygenic scores may enable sufficiently discriminatory predictors to change standards of care to predict and prevent disease. However, there are a number of hurdles which must be overcome to make this vision a reality, which I seek to work on in my research
研究兴趣
论文共 75 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Translational sports medicine (2024): 3184356-3184356
Cell genomicsno. 10 (2024): 100669-100669
Journal of the neurological sciences (2023): 120638-120638
Marie Bernkopf,Ummi B. Abdullah,Stephen J. Bush, Katherine A. Wood, Sahar Ghaffari,Eleni Giannoulatou,Nils Koelling,Geoffrey J. Maher,Loïc M. Thibaut,Jonathan Williams,Edward M. Blair,Fiona Blanco Kelly, Angela Bloss,Emma Burkitt-Wright,Natalie Canham,Alexander T. Deng,Abhijit Dixit,Jacqueline Eason,Frances Elmslie,Alice Gardham,Eleanor Hay,Muriel Holder,Tessa Homfray,Jane A. Hurst,Diana Johnson,Wendy D. Jones,Usha Kini,Emma Kivuva,Ajith Kumar,Melissa M. Lees,Harry G. Leitch,Jenny E. V. Morton,Andrea H. Németh,Shwetha Ramachandrappa,Katherine Saunders,Deborah J. Shears,Lucy Side,Miranda Splitt,Alison Stewart,Helen Stewart,Mohnish Suri,Penny Clouston,Robert W. Davies,Andrew O. M. Wilkie,Anne Goriely
Nature communicationsno. 1 (2023): 853-853
加载更多
作者统计
#Papers: 76
#Citation: 7529
H-Index: 29
G-Index: 55
Sociability: 7
Diversity: 3
Activity: 36
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn