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Detecting and annotating genetic variations using the HugeSeq pipeline

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Figure 1: A MapReduce approach for detecting genetic variants from high-throughput genome sequencing.
Figure 2: Accuracy and sensitivity of variant detection.


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We acknowledge support from the US National Institutes of Health. We also thank K. Ye, K. Chen and A. Abyzov for helpful discussions.

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Correspondence to Michael Snyder.

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Competing interests

M.S. is a scientific advisory board member for Genapsys, Inc.; a scientific advisory board member and cofounder of Personalis, Inc.; and a scientific advisory board member for DNA Nexus.

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Supplementary Methods, Supplementary Tables 1, 2 and Supplementary Figs. 1–3 (PDF 1481 kb)

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Lam, H., Pan, C., Clark, M. et al. Detecting and annotating genetic variations using the HugeSeq pipeline. Nat Biotechnol 30, 226–229 (2012).

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