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JSM 2012 Online Program

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Activity Details

CE_05C Sat, 7/28/2012, 8:30 AM - 5:00 PM HQ-Indigo 202
Statistical Methods for Genome-Wide Association, Copy Number Variants, and Rare Variants Analysis — Continuing Education Course
ASA , Biometrics Section
Instructor(s): Hongzhe Li, University of Pennsylvania, Wei Pan, University of Minnesota
Our short course will introduce statistical issues and methods related to analysis of genome-wide association data, copy number variation analysis and analysis of rare variants in human genetic research. Genome-wide association studies (GWAS) have been very successful and have identified thousands of new genetic variants that are associated with common diseases. This course will first introduce the rational, design and standard analysis methods for GWAS and then move on to more advanced topics in genetic association studies that aim to identify the missing heritabilities. These topics include gene sets and pathway-based analysis of GWAS data, methods for copy number variants analysis and methods for analysis of rare variants based on next-generation sequence data. Genome-wide association study of neuroblastoma will be used throughout this course to demonstrate these methods. The main topics will cover: (1) Design and analysis of genome-wide association studies, GWAS of neuroblastoma; (2) Advanced topics in GWAS analysis, focusing on multi-locus and gene set/pathway analysis; (3) Methods for analysis of copy number variants and optimal segment detection and identification; (4) Analysis of rare genetic variants with next-generation sequence data. Prerequisite: basic knowledge of statistical inferences, some familiarity with basic genetic terminologies (e.g. alleles, genotypes, haplotypes, SNPs, linkage disequilibrium etc).

2012 JSM Online Program Home

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