메뉴 건너뛰기




Volumn 14, Issue 4, 2012, Pages 393-398

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: Lessons from the ClinSeq project

Author keywords

genetic mutation; incidental findings; inherited disease; massively parallel sequencing

Indexed keywords

GENOMIC DNA; MESSENGER RNA;

EID: 84859583108     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2011.78     Document Type: Article
Times cited : (138)

References (14)
  • 1
    • 69749108657 scopus 로고    scopus 로고
    • The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine
    • NISC Comparative Sequencing Program
    • Biesecker LG, Mullikin JC, Facio FM, et al.; NISC Comparative Sequencing Program. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res 2009;19:1665-1674.
    • (2009) Genome Res , vol.19 , pp. 1665-1674
    • Biesecker, L.G.1    Mullikin, J.C.2    Facio, F.M.3
  • 3
    • 79951472909 scopus 로고    scopus 로고
    • Charting a course for genomic medicine from base pairs to bedside
    • National Human Genome Research Institute
    • Green ED, Guyer MS; National Human Genome Research Institute. Charting a course for genomic medicine from base pairs to bedside. Nature 2011;470:204-213.
    • (2011) Nature , vol.470 , pp. 204-213
    • Green, E.D.1    Guyer, M.S.2
  • 4
    • 78649297854 scopus 로고    scopus 로고
    • Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing
    • NISC Comparative Sequencing Program
    • Teer JK, Bonnycastle LL, Chines PS, et al.; NISC Comparative Sequencing Program. Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res 2010;20:1420-1431.
    • (2010) Genome Res , vol.20 , pp. 1420-1431
    • Teer, J.K.1    Bonnycastle, L.L.2    Chines, P.S.3
  • 5
    • 79952198057 scopus 로고    scopus 로고
    • Exome sequencing: The sweet spot before whole genomes
    • Teer JK, Mullikin JC. Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet 2010;19(R2):R145-R151.
    • (2010) Hum Mol Genet , vol.19 , Issue.R2
    • Teer, J.K.1    Mullikin, J.C.2
  • 7
    • 77955242474 scopus 로고    scopus 로고
    • Identification of a novel LDLR mutation (c.261-262invGA, p.Trp87X): Importance of specifying DNA and protein mutations
    • NIH Intramural Sequencing Centre
    • Ng D, Spaulding E, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Centre. Identification of a novel LDLR mutation (c.261-262invGA, p.Trp87X): Importance of specifying DNA and protein mutations. Atherosclerosis 2010;211:397-398.
    • (2010) Atherosclerosis , vol.211 , pp. 397-398
    • Ng, D.1    Spaulding, E.2    Mullikin, J.C.3    Biesecker, L.G.4
  • 9
    • 79951863517 scopus 로고    scopus 로고
    • Ethical and practical guidelines for reporting genetic research results to study participants: Updated guidelines from a National Heart, Lung, and Blood Institute working group
    • National Heart, Lung, and Blood Institute working group
    • Fabsitz RR, McGuire A, Sharp RR, et al.; National Heart, Lung, and Blood Institute working group. Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet 2010;3:574-580.
    • (2010) Circ Cardiovasc Genet , vol.3 , pp. 574-580
    • Fabsitz, R.R.1    McGuire, A.2    Sharp, R.R.3
  • 11
    • 81555203460 scopus 로고    scopus 로고
    • Motivators for participation in a whole-genome sequencing study: Implications for translational genomics research
    • Facio FM, Brooks S, Loewenstein J, Green S, Biesecker LG, Biesecker BB. Motivators for participation in a whole-genome sequencing study: implications for translational genomics research. Eur J Hum Genet 2011;19:1213-1217.
    • (2011) Eur J Hum Genet , vol.19 , pp. 1213-1217
    • Facio, F.M.1    Brooks, S.2    Loewenstein, J.3    Green, S.4    Biesecker, L.G.5    Biesecker, B.B.6
  • 12
    • 84860389181 scopus 로고    scopus 로고
    • A mosaic activating mutation in AKT1 associated with the Proteus syndrome
    • Lindhurst MJ, Sapp JC, Teer JK, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011;365: 611-619.
    • (2011) N Engl J Med , vol.365 , pp. 611-619
    • Lindhurst, M.J.1    Sapp, J.C.2    Teer, J.K.3
  • 13
    • 80052269204 scopus 로고    scopus 로고
    • Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
    • NIH Intramural Sequencing Center Group
    • Sloan JL, Johnston JJ, Manoli I, et al.; NIH Intramural Sequencing Center Group. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet 2011;43:883-886.
    • (2011) Nat Genet , vol.43 , pp. 883-886
    • Sloan, J.L.1    Johnston, J.J.2    Manoli, I.3
  • 14
    • 77951976367 scopus 로고    scopus 로고
    • Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate
    • NIH Intramural Sequencing Center (NISC)
    • Johnston JJ, Teer JK, Cherukuri PF, et al.; NIH Intramural Sequencing Center (NISC). Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet 2010;86:743-748.
    • (2010) Am J Hum Genet , vol.86 , pp. 743-748
    • Johnston, J.J.1    Teer, J.K.2    Cherukuri, P.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.