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Detection of hydin Gene Duplication in Personal Genome Sequence Data
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  • Detection of hydin Gene Duplication in Personal Genome Sequence Data
  • Detection of hydin Gene Duplication in Personal Genome Sequence Data
저자명
Kim. Jong-Il,Ju. Young-Seok,Kim. Shee-Hyun,Hong. Dong-Wan,Seo. Jeong-Sun
간행물명
Genomics & informatics
권/호정보
2009년|7권 3호|pp.159-162 (4 pages)
발행정보
한국유전체학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
서지반출

기타언어초록

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.