Markov Models for Inferring Copy Number Variations from Genotype Data on Illumina Platforms

Hui Wang, Jan Veldink, Roel Opoff, and Chiara Sabatti
We develop an algorithm to analyze data from Illumina genotyping arrays for the detection of copy number variations in a single individual or in a random sample of individuals. We use a Hidden Markov Model framework, appropriately extended to take into account linkage disequilibrium between nearby loci. We describe a multisample approach to estimate the frequency of copy number variants in the population. With appropriate dataset, our methodology simultaneously analyzes the data for copy-number variation and tests for association between this and a disease trait of interest.
2008-09-01