Principal Investigator: Professor Shengying Qin
Shanghai Jiao Tong University, China
Dr Hailiang Huang – Broad Institute, Boston, USA
Dr Fenglong Sun – Digital China Health Technologies Co., Ltd., Beijing, ChinaTags: 34716, Association test, genomic inflation, Population Structure, rare variant, resampling
Recent technology advances have enabled large-scale analysis of rare variants, but properly testing rare variants associated with complex disorders remains a significant challenge. Most rare variant testing methods assume samples from a single population, which is often not true for large studies such as UK Biobank. We propose a population-informed resampling method for studies of multiple populations for rare variant tests. Preliminary results showed this empirical approach can effectively control for false-positives while maintaining statistical power. We plan to apply this method to various human complex disorders and traits including cancer, heart diseases, stroke, diabetes, arthritis, osteoporosis, eye disorders, autoimmune inflammatory, depression and forms of dementia. The findings will help us further elucidating biological mechanism of threatening illness, eventually lead to new insight into drug research and development. The project duration will be around 2 years.
Recent technology advances have enabled large-scale analysis of rare variants, but properly testing rare variants remains a significant challenge as most rare variant testing methods assume a sample of homogenous ethnicity, an assumption often not true for large cohorts. We propose a population-informed bootstrap resampling method that controls for population stratification in rare variant tests. We propose to apply this method to human complex disorders and traits including height, weight, BMI, autoimmune, inflammatory, cardiovascular and psychiatry disorders.
We also test common variants associated with complex diseases as supplementary evidence to the effect of rare variants and population heterogeneity. In addition, we also want to test the common variants associated with complex diseases as supplementary evidence to the effect of rare variants and population heterogeneity.
Last updated Jan 6, 2020