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Free keywords:
Next-generation sequencing, Targeted re-sequencing, Target enrichment, Sample pooling, DNA pooling, Rare genetic variants, Complex disease, Psychiatric disorder, Human genetics, genetic disorders
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.
