Computational Biology Commons^™

Using The R Package Crlmm For Genotyping And Copy Number Estimation, Robert B. Scharpf, Rafael Irizarry, Walter Ritchie, Benilton Carvalho, Ingo Ruczinski

Johns Hopkins University, Dept. of Biostatistics Working Papers

Genotyping platforms such as Affymetrix can be used to assess genotype-phenotype as well as copy number-phenotype associations at millions of markers. While genotyping algorithms are largely concordant when assessed on HapMap samples, tools to assess copy number changes are more variable and often discordant. One explanation for the discordance is that copy number estimates are susceptible to systematic differences between groups of samples that were processed at different times or by different labs. Analysis algorithms that do not adjust for batch effects are prone to spurious measures of association. The R package crlmm implements a multilevel model that adjusts for …