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Volumn 1168, Issue , 2014, Pages 195-206

Setting up next-generation sequencing in the medical laboratory

(1)  Yu, Bing a  

a NONE

Author keywords

Genomic diagnosis; Medical genetics laboratory; Quality assurance

Indexed keywords

ARTICLE; CANCER CELL; CLINICAL DECISION MAKING; CLINICAL LABORATORY; CLINICAL PRACTICE; CONTROLLED STUDY; DATA ANALYSIS; DNA SEQUENCE; DNA TEMPLATE; FINE NEEDLE ASPIRATION BIOPSY; HUMAN; HUMAN CELL; INFORMATION PROCESSING; MULTIPLEX POLYMERASE CHAIN REACTION; NEXT GENERATION SEQUENCING; POWER SUPPLY; PRIORITY JOURNAL; QUALITY CONTROL; SENSITIVITY AND SPECIFICITY; SOMATIC MUTATION; TURNAROUND TIME; WATER SUPPLY; HIGH THROUGHPUT SEQUENCING; PROCEDURES;

EID: 84917740286     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4939-0847-9_11     Document Type: Article
Times cited : (4)

References (17)
  • 1
    • 84864920004 scopus 로고    scopus 로고
    • Comparison of next-generation sequencing systems
    • Liu L, Li Y, Li S et al (2012) Comparison of next-generation sequencing systems. J Biomed Biotechnol 2012:251-364
    • (2012) J Biomed Biotechnol , vol.2012 , pp. 251-364
    • Liu, L.1    Li, Y.2    Li, S.3
  • 2
    • 24044455869 scopus 로고    scopus 로고
    • Genome sequencing in microfabricated high-density picolitre reactors
    • Margulies M, Egholm M, Altman WE et al (2005) Genome sequencing in microfabricated high-density picolitre reactors. Nature 437: 376-380
    • (2005) Nature , vol.437 , pp. 376-380
    • Margulies, M.1    Egholm, M.2    Altman, W.E.3
  • 3
    • 84892627342 scopus 로고    scopus 로고
    • Translational genomics in personalized medicine-scientific challenges en route to clinical practice
    • Martinez de Lecea MG, Rossbach M (2012) Translational genomics in personalized medicine-scientific challenges en route to clinical practice. HUGO J 6:1-9
    • (2012) HUGO J , vol.6 , pp. 1-9
    • De Martinez Lecea, M.G.1    Rossbach, M.2
  • 4
    • 55549089660 scopus 로고    scopus 로고
    • Accurate whole human genome sequencing using reversible terminator chemistry
    • Bentley DR, Balasubramanian S, Swerdlow HP et al (2008) Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456:53-59
    • (2008) Nature , vol.456 , pp. 53-59
    • Bentley, D.R.1    Balasubramanian, S.2    Swerdlow, H.P.3
  • 5
    • 77955237447 scopus 로고    scopus 로고
    • Highly-multiplexed barcode sequencing: An efficient method for parallel analysis of pooled samples
    • Smith AM, Heisler LE, St Onge RP et al (2010) Highly-multiplexed barcode sequencing: an efficient method for parallel analysis of pooled samples. Nucleic Acids Res 38:e142
    • (2010) Nucleic Acids Res , vol.38
    • Smith, A.M.1    Heisler, L.E.2    St Onge, R.P.3
  • 6
    • 84865591846 scopus 로고    scopus 로고
    • A tale of three next generation sequencing platforms: Comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers
    • Quail MA, Smith M, Coupland P et al (2012) A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers. BMC Genomics 13:341
    • (2012) BMC Genomics , vol.13 , pp. 341
    • Quail, M.A.1    Smith, M.2    Coupland, P.3
  • 7
    • 58149234737 scopus 로고    scopus 로고
    • Real-time DNA sequencing from single polymerase molecules
    • Eid J, Fehr A, Gray J et al (2009) Real-time DNA sequencing from single polymerase molecules. Science 323:133-138
    • (2009) Science , vol.323 , pp. 133-138
    • Eid, J.1    Fehr, A.2    Gray, J.3
  • 8
    • 84867946004 scopus 로고    scopus 로고
    • Next-generation sequencing: Impact of exome sequencing in characterizing Mendelian disorders
    • Rabbani B, Mahdieh N, Hosomichi K et al (2012) Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders. J Hum Genet 57:621-632
    • (2012) J Hum Genet , vol.57 , pp. 621-632
    • Rabbani, B.1    Mahdieh, N.2    Hosomichi, K.3
  • 10
    • 84869429716 scopus 로고    scopus 로고
    • Assuring the quality of next-generation sequencing in clinical laboratory practice
    • Gargis AS, Kalman L, Berry MW et al (2012) Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol 30:1033-1036
    • (2012) Nat Biotechnol , vol.30 , pp. 1033-1036
    • Gargis, A.S.1    Kalman, L.2    Berry, M.W.3
  • 11
    • 84941011522 scopus 로고    scopus 로고
    • Guidelines and approaches to compliance with regulatory and clinical standards: Quality control procedures and quality assurance
    • In: Wong L, Springer, New York
    • Lubin IM, Kalman L, Gargis AS (2013) Guidelines and approaches to compliance with regulatory and clinical standards: quality control procedures and quality assurance. In: Wong L (ed) Next generation sequencing: translation to clinical diagnostics. Springer, New York, pp 255-273
    • (2013) Next Generation Sequencing: Translation to Clinical Diagnostics , pp. 255-273
    • Lubin, I.M.1    Kalman, L.2    Gargis, A.S.3
  • 12
    • 84940993044 scopus 로고    scopus 로고
    • Computational infrastructure and basic data analysis for high-throughput sequencing
    • In: Rodriguez-Ezpeleta N, Hackenberg M, Aransay AM, Springer, New York
    • Sexton D (2012) Computational infrastructure and basic data analysis for high-throughput sequencing. In: Rodriguez-Ezpeleta N, Hackenberg M, Aransay AM (eds) Bioinformatics for high throughput sequencing. Springer, New York, pp 55-66
    • (2012) Bioinformatics for High Throughput Sequencing , pp. 55-66
    • Sexton, D.1
  • 13
    • 84940994831 scopus 로고    scopus 로고
    • Accessed 4 Sept 2013
    • NGS Field Guide: Overview (2013) www.molecularecologist.com/next-gen-fieldguide-2013/. Accessed 4 Sept 2013
    • (2013) NGS Field Guide: Overview
  • 14
    • 84884533101 scopus 로고    scopus 로고
    • Best practice guidelines for the use of next generation sequencing (NGS) applications in genome diagnostics: A national collaborative study of dutch genome diagnostic laboratories
    • Weiss MM, Van der Zwaag B, Jongbloed JD et al (2013) Best practice guidelines for the use of next generation sequencing (NGS) applications in genome diagnostics: a national collaborative study of dutch genome diagnostic laboratories. Hum Mutat 34: 1313-1321
    • (2013) Hum Mutat , vol.34 , pp. 1313-1321
    • Weiss, M.M.1    Van Der Zwaag, B.2    Jongbloed, J.D.3
  • 16
    • 84857050624 scopus 로고    scopus 로고
    • Age-related somatic structural changes in the nuclear genome of human blood cells
    • Forsberg LA, Rasi C, Razzaghian HR et al (2012) Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet 90:217-228
    • (2012) Am J Hum Genet , vol.90 , pp. 217-228
    • Forsberg, L.A.1    Rasi, C.2    Razzaghian, H.R.3
  • 17
    • 84880922809 scopus 로고    scopus 로고
    • Next-generation sequencing meets genetic diagnostics: Development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes
    • Feliubadalo L, Lopez-Doriga A, Castellsague E et al (2012) Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes. Eur J Hum Genet 21: 864-870
    • (2012) Eur J Hum Genet , vol.21 , pp. 864-870
    • Feliubadalo, L.1    Lopez-Doriga, A.2    Castellsague, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.