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Abstract

The method presented here enables researchers to sequence a target region in the genome in a large number of subjects at comparatively low cost. The method relies heavily on modern massively parallel sequencing (MPS) technologies, and the costs and workload for DNA sample preparation are major factors in targeted re-sequencing studies involving many individual samples. In order to reduce costs during sample preparation, we propose to sequence pools of subjects rather than individual subjects. Thus, our approach is divided into four subparts: (1) non-barcoded sample pooling, (2) enrichment of the target region, (3) sequencing using standard MPS protocols, and (4) tailored bioinformatics analysis of the data, which identifies rare variants in the pools.