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. 2014 Oct 21;15(Suppl 11):S6. doi: 10.1186/1471-2105-15-S11-S6

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Copyright © 2014 Zhang et al.; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Study design and workflow of this study. The whole genome sequencing data of 35 individuals were used for mapping to the human genome and SNV calling by two pipelines. The overlapped SNVs from the two pipelines were used to represent Korean population and then compared with two references to search for Korean only SNVs and shared SNVs with other populations. Then shared SNVs were annotated. For the Korean only SNVs, two subgroups (SNV-1 and SNV-35) were derived in accordance with the occurrences in the Korean population. The two subgroups of SNVs were then annotated. The non-synonymous SNVs were determined and the corresponding genes were used for enrichment and association analyses.