Genomics & Informatics

  • 제7권3호
  • /
  • Pages.159-162
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  • 2009
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  • 1598-866X(pISSN)
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  • 2234-0742(eISSN)
한국유전체학회 (Korea Genome Organization)
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Detection of hydin Gene Duplication in Personal Genome Sequence Data

  • Kim, Jong-Il (Genomic Medicine Institute, Medical Research Center, Seoul National University) ;
  • Ju, Young-Seok (Genomic Medicine Institute, Medical Research Center, Seoul National University) ;
  • Kim, Shee-Hyun (Macrogen Inc.) ;
  • Hong, Dong-Wan (Genomic Medicine Institute, Medical Research Center, Seoul National University) ;
  • Seo, Jeong-Sun (Genomic Medicine Institute, Medical Research Center, Seoul National University)
  • 발행 : 2009.09.30
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초록

Human personal genome sequencing can be done with high efficiency by aligning a huge number of short reads derived from various next generation sequencing (NGS) technologies to the reference genome sequence. One of the major obstacles is the incompleteness of human reference genome. We tried to analyze the effect of hidden gene duplication on the NGS data using the known example of hydin gene. Hydin2, a duplicated copy of hydin on chromosome 16q22, has been recently found to be localized to chromosome 1q21, and is not included in the current version of standard human genome reference. We found that all of eight personal genome data published so far do not contain hydin2, and there is large number of nsSNPs in hydin. The heterozygosity of those nsSNPs was significantly higher than expected. The sequence coverage depth in hydin gene was about two fold of average depth. We believe that these unique finding of hydin can be used as useful indicators to discover new hidden multiplication in human genome.

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참고문헌

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피인용 문헌

  1. Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals vol.43, pp.8, 2011, https://doi.org/10.1038/ng.872
  2. Using population admixture to help complete maps of the human genome vol.45, pp.4, 2013, https://doi.org/10.1038/ng.2565