ZFA - An efficient association testing method for whole exome sequencing study

Date:

Thursday, 27 August 2019

Time:

1.00pm – 2.00pm

Venue:

Seminar Room 2, Level 8
Tahir Foundation Building (MD1)
Saw Swee Hock School of Public Health
National University of Singapore
12 Science Drive 2, S(117549)

Synopsis:

The increase amount of whole exome or genome sequencing data brings forth the challenge of analysing the association of rare variants that have extremely small minor allele frequencies. Various statistical tests have been proposed to increase the power for rare variants by conducting the test within a certain bin, such as a gene or a pathway. However, a gene may contain several to thousands of markers, and not all of them are related to the phenotype. Combining functional and non-functional variants in arbitrary genomic region may compromise the power. We propose a Zoom-Focus Algorithm (ZFA) to locate the optimal testing region within a given genomic region. Simulation studies showed that ZFA substantially increased the statistical power of rare variants tests. The algorithm was applied to real exome sequencing data of hypertensive disorder and biologically relevant genetic markers of metabolic disorder that were not discovered by gene-based method.

About the speaker:

Dr Maggie Wang is currently an Assistant Professor at the School of Public Health and Primary Care, the Chinese University of Hong Kong. Her main research area is statistical genetics and bioinformatics. She obtained her PhD degree in Statistics in the Hong Kong University of Science and Technology. She was a visiting scholar at Columbia University in 2009, and at Stanford University (S.H. Ho Visiting Professorship) in 2016. She has developed a number of novel methods for association testing and disease prediction for genome data. Dr Wang is the review editor of Human Genetics.