ResqMi - a versatile algorithm and software for Resequencing Microarrays

Abstract

Resequencing microarrays are a common tool for fast monitoring of individual genetic variations. Applications include diagnosis of genetic and infectious diseases and SNP prediction. Base calling is the crucial step in the analysis of resequencing data. All current base calling algorithms produce ambiguous calls on parts of the sequence. Therefore, proper data handling, editing and visualization as well as revised calling algorithms are generally necessary for successful data interpretation. We present a base calling algorithm that uses a model-based approach using intensity comparisons and region-wise conformance assessment, as well as an algorithm to revise uncalled positions. The calling algorithm is shown to have call rates comparable to ABACUS, the currently most commonly used method. Both algorithms combined however can considerably increase the calling rate. We also present a new open source software called ResqMi, short for Resequencing using Microarrays, which focuses on the efficient and user-friendly analysis, visual inspection and easy manual editing of resequencing microarray data. Both algorithms are implemented as plugins for ResqMi. ResqMi is available at http://www-ps.informatik.uni-tuebingen.de/resqmi