Abstract
Here we present an adaptation of NimbleGen 2.1M-probe array sequence capture for whole exome sequencing using the Illumina Genome Analyzer (GA) platform. The protocol involves two-stage library construction. The specificity of exome enrichment was approximately 80% with 95.6% even coverage of the 34 Mb target region at an average sequencing depth of 33-fold. Comparison of our results with whole genome shot-gun resequencing results showed that the exome SNP calls gave only 0.97% false positive and 6.27% false negative variants. Our protocol is also well suited for use with whole genome amplified DNA. The results presented here indicate that there is a promising future for large-scale population genomics and medical studies using a whole exome sequencing approach.
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Jiang, T., Yang, L., Jiang, H. et al. High-performance single-chip exon capture allows accurate whole exome sequencing using the Illumina Genome Analyzer. Sci. China Life Sci. 54, 945–952 (2011). https://doi.org/10.1007/s11427-011-4232-4
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DOI: https://doi.org/10.1007/s11427-011-4232-4