정보과학회지 (Communications of the Korean Institute of Information Scientists and Engineers)

한국정보과학회 (Korean Institute of Information Scientists and Engineers)
권호 표지

전체 유전체 서열분석 데이터의 거짓 양성 변이 분석

  • 발행 : 2014.03.14
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참고문헌

  1. DA Wheeler et al., The complete genome of an individual by massively parallel DNA sequencing, Nature, 452:872-876, 2008. https://doi.org/10.1038/nature06884
  2. J Shendure and H Ji, Next-generation DNA sequencing, Nature Biotechnology, 26:1135-1145, 2008. https://doi.org/10.1038/nbt1486
  3. SC Schuster, Next-generation sequencing transforms today's biology, Nature Methods, 5:16-18, 2008.
  4. JC Roach et al., Analysis of genetic inheritance in a family quartet by whole genome sequencing, Science, 328(5978):636-639, 2010. https://doi.org/10.1126/science.1186802
  5. SB Ng et al., Exome sequencing identifies the cause of a Mendelian disorder, Nature Genetics, 42:30-35, 2010. https://doi.org/10.1038/ng.499
  6. JR Lupski et al., Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy, New England Journal of Medicine, 362:1181-1191, 2010. https://doi.org/10.1056/NEJMoa0908094
  7. A Hoischen et al., De novo mutations of SETBP1 cause Schinzel-Giedion syndrome, Nature Genetics, 42:483-485, 2010. https://doi.org/10.1038/ng.581
  8. NL Sobreira et al., Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene, PLoS Genetics, 6(6):e10- 00991, 2010.
  9. SB Ng et al., Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome, Nature Genetics, 42:790-793, 2010. https://doi.org/10.1038/ng.646
  10. ET Cirulli and DB Goldstein, Uncovering the roles of rare variants in common disease through whole-genome sequencing, Nature Reviews Genetics, 11(6):415-425, 2010. https://doi.org/10.1038/nrg2779
  11. DF Conrad et al., Variation in genome-wide mutation rates within and between human families, Nature Genetics, 43:712-714, 2011. https://doi.org/10.1038/ng.862