Pasaniuc et al. simulated DNA sequencing on 1000 Genomes Project data sets at different depths to determine whether low-depth sequencing could be an accurate and cost-effective alternative to array-based SNP genotyping in genome-wide association studies. They found that low-depth sequencing (at 0.1–0.5×) has comparable accuracy to high-resolution SNP arrays — a result confirmed by real low-depth exome sequencing data. At current costs, this sequencing approach was estimated to be six times cheaper than SNP arrays.
ORIGINAL RESEARCH PAPER
Pasaniuc, B. et al. Extremely low-coverage sequencing and imputation increases power for genome-wide association studies. Nature Genet. 44, 631–635 (2012)
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Burgess, D. Economical yet informative sequencing strategy. Nat Rev Genet 13, 451 (2012). https://doi.org/10.1038/nrg3278
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DOI: https://doi.org/10.1038/nrg3278
