Totalomics Solutions

TotalOmics

엑솜 해독 관련 논문

2010년

  • Ng SB. et al., Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010 Sep;42(9):790-3. Epub 2010 Aug 15.
  • Bowden DW. et al., Molecular basis of a linkage peak: exome sequencing and family-based analysis identify a rare genetic variant in the ADIPOQ gene in the IRAS Family Study. Hum Mol Genet. 2010 Oct 15;19(20):4112-20. Epub 2010 Aug 5.
  • Pierce SB. et al., Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet. 2010 Aug 13;87(2):282-8. Epub 2010 Jul 30.
  • Gloyn AL. et al., Variation across the allele frequency spectrum. Nat Genet. 2010 Aug;42(8):648-50.
  • Walsh T. et al., Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet. 2010 Jul 9;87(1):90-4. Epub 2010 Jun 17.
  • Summerer D. et al., Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform. Genomics. 2010 Apr;95(4):241-6. Epub 2010 Feb 6.
  • Turner EH. et al., Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods. 2009 May;6(5):315-6. Epub 2009 Apr 6.
  • Choi M. et al., Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. Epub 2009 Oct 27.
  • Ng SB. et al., Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan;42(1):30-5. Epub 2009 Nov 13.



2009년

  • Mardis ER. et al., New strategies and emerging technologies for massively parallel sequencing applications in medical research. Genome Med. 2009 Apr 17;1(4):40.
  • jones S. et al., Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science. 2009 Apr 10;324(5924):217. Epub 2009 Mar 5.
  • Ng SB. et al., Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 2009 Sep 10;461(7261):272-6. Epub 2009 Aug 16.
  • Gnirke A. et al., Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol. 2009 Feb;27(2):182-9. Epub 2009 Feb 1.
  • Ng SB. et al., Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan;42(1):30-5. Epub 2009 Nov 13.


2008년

  • Altshuler D. et al., Genetic mapping in human disease. Science. 2008 Nov 7;322(5903):881-8.
  • Bodmer W. et al., Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet. 2008 Jun;40(6):695-701.
  • Ley TJ. et al., DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature. 2008 Nov 6;456(7218):66-72.
  • Wang J. et al., The diploid genome sequence of an Asian individual. Nature. 2008 Nov 6;456(7218):60-5.
  • ng PC. et al., Genetic variation in an individual human exome. PLoS Genet. 2008 Aug 15;4(8):e1000160.


2007년

  • Hodges E. et al., Genome-wide in situ exon capture for selective resequencing. Nat Genet. 2007 Dec;39(12):1522-7. Epub 2007 Nov 4.