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Volumn 8, Issue 7, 2013, Pages

Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 84879813568     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0067744     Document Type: Article
Times cited : (50)

References (38)
  • 1
    • 80051710052 scopus 로고    scopus 로고
    • HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
    • Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, et al. (2012) HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace 13: 1077-1109.
    • (2012) Europace , vol.13 , pp. 1077-1109
    • Ackerman, M.J.1    Priori, S.G.2    Willems, S.3    Berul, C.4    Brugada, R.5
  • 2
    • 41149114636 scopus 로고    scopus 로고
    • Clinical indications for genetic testing in familial sudden cardiac death syndromes
    • HRUK position statement
    • HRUK position statement, (2008) Clinical indications for genetic testing in familial sudden cardiac death syndromes. Heart 94: 502-507.
    • (2008) Heart , vol.94 , pp. 502-507
  • 4
    • 80053292217 scopus 로고    scopus 로고
    • Management of familial hypercholesterolemia in children and young adults: consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patient organization
    • Descamps OS, Tenoutasse S, Stephenne X, Gies I, Beauloye V, et al. (2011) Management of familial hypercholesterolemia in children and young adults: consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patient organization. Atherosclerosis 218: 272-280.
    • (2011) Atherosclerosis , vol.218 , pp. 272-280
    • Descamps, O.S.1    Tenoutasse, S.2    Stephenne, X.3    Gies, I.4    Beauloye, V.5
  • 5
    • 84856217893 scopus 로고    scopus 로고
    • Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist
    • Ware JS, Roberts AM, Cook SA, (2012) Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist. Heart 98: 276-81.
    • (2012) Heart , vol.98 , pp. 276-281
    • Ware, J.S.1    Roberts, A.M.2    Cook, S.A.3
  • 7
    • 77951481903 scopus 로고    scopus 로고
    • Mainstreaming genetics: a comparative review of clinical services for inherited cardiovascular conditions in the UK
    • Burton H, Alberg C, Stewart A, (2010) Mainstreaming genetics: a comparative review of clinical services for inherited cardiovascular conditions in the UK. Public Health Genomics 13: 235-245.
    • (2010) Public Health Genomics , vol.13 , pp. 235-245
    • Burton, H.1    Alberg, C.2    Stewart, A.3
  • 8
    • 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, Otto TD, Harris SR, 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    Otto, T.D.4    Harris, S.R.5
  • 9
    • 84862318037 scopus 로고    scopus 로고
    • A pilot study of rapid benchtop sequencing of Staphylococcus aureus and Clostridium difficile for outbreak detection and surveillance
    • Eyre DW, Golubchik T, Gordon NC, Bowden R, Piazza P, et al. (2012) A pilot study of rapid benchtop sequencing of Staphylococcus aureus and Clostridium difficile for outbreak detection and surveillance. BMJ Open 2.
    • (2012) BMJ Open , pp. 2
    • Eyre, D.W.1    Golubchik, T.2    Gordon, N.C.3    Bowden, R.4    Piazza, P.5
  • 11
    • 84866564536 scopus 로고    scopus 로고
    • Improving indel detection specificity of the Ion Torrent PGM benchtop sequencer
    • Yeo ZX, Chan M, Yap YS, Ang P, Rozen S, et al. (2012) Improving indel detection specificity of the Ion Torrent PGM benchtop sequencer. PLoS One 7: e45798.
    • (2012) PLoS One , vol.7
    • Yeo, Z.X.1    Chan, M.2    Yap, Y.S.3    Ang, P.4    Rozen, S.5
  • 12
    • 84869218774 scopus 로고    scopus 로고
    • Next-Generation Ion Torrent Sequencing of Drug Resistance Mutations in Mycobacterium tuberculosis Strains
    • Daum LT, Rodriguez JD, Worthy SA, Ismail NA, Omar SV, et al. (2012) Next-Generation Ion Torrent Sequencing of Drug Resistance Mutations in Mycobacterium tuberculosis Strains. J Clin Microbiol 50: 3831-3837.
    • (2012) J Clin Microbiol , vol.50 , pp. 3831-3837
    • Daum, L.T.1    Rodriguez, J.D.2    Worthy, S.A.3    Ismail, N.A.4    Omar, S.V.5
  • 13
    • 84864754044 scopus 로고    scopus 로고
    • Bacterial community shift in treated periodontitis patients revealed by ion torrent 16S rRNA gene amplicon sequencing
    • Junemann S, Prior K, Szczepanowski R, Harks I, Ehmke B, et al. (2012) Bacterial community shift in treated periodontitis patients revealed by ion torrent 16S rRNA gene amplicon sequencing. PLoS One 7: e41606.
    • (2012) PLoS One , vol.7
    • Junemann, S.1    Prior, K.2    Szczepanowski, R.3    Harks, I.4    Ehmke, B.5
  • 14
    • 84867613923 scopus 로고    scopus 로고
    • Microbial 16S rRNA Ion Tag and community metagenome sequencing using the Ion Torrent (PGM) Platform
    • Whiteley AS, Jenkins S, Waite I, Kresoje N, Payne H, et al. (2012) Microbial 16S rRNA Ion Tag and community metagenome sequencing using the Ion Torrent (PGM) Platform. J Microbiol Methods 91: 80-88.
    • (2012) J Microbiol Methods , vol.91 , pp. 80-88
    • Whiteley, A.S.1    Jenkins, S.2    Waite, I.3    Kresoje, N.4    Payne, H.5
  • 15
    • 84862093048 scopus 로고    scopus 로고
    • Ion torrent personal genome machine sequencing for genomic typing of Neisseria meningitidis for rapid determination of multiple layers of typing information
    • Vogel U, Szczepanowski R, Claus H, Junemann S, Prior K, et al. (2012) Ion torrent personal genome machine sequencing for genomic typing of Neisseria meningitidis for rapid determination of multiple layers of typing information. J Clin Microbiol 50: 1889-1894.
    • (2012) J Clin Microbiol , vol.50 , pp. 1889-1894
    • Vogel, U.1    Szczepanowski, R.2    Claus, H.3    Junemann, S.4    Prior, K.5
  • 16
    • 84863981120 scopus 로고    scopus 로고
    • Ultra-high-throughput microbial community analysis on the Illumina HiSeq and MiSeq platforms
    • Caporaso JG, Lauber CL, Walters WA, Berg-Lyons D, Huntley J, et al. (2012) Ultra-high-throughput microbial community analysis on the Illumina HiSeq and MiSeq platforms. ISME J 6: 1621-1624.
    • (2012) ISME J , vol.6 , pp. 1621-1624
    • Caporaso, J.G.1    Lauber, C.L.2    Walters, W.A.3    Berg-Lyons, D.4    Huntley, J.5
  • 17
    • 84867400465 scopus 로고    scopus 로고
    • Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform
    • Chan M, Ji SM, Yeo ZX, Gan L, Yap E, et al. (2012) Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform. J Mol Diagn 14: 602-612.
    • (2012) J Mol Diagn , vol.14 , pp. 602-612
    • Chan, M.1    Ji, S.M.2    Yeo, Z.X.3    Gan, L.4    Yap, E.5
  • 18
    • 84859452678 scopus 로고    scopus 로고
    • Rapid detection of the ACMG/ACOG-recommended 23 CFTR disease-causing mutations using ion torrent semiconductor sequencing
    • Elliott AM, Radecki J, Moghis B, Li X, Kammesheidt A, (2012) Rapid detection of the ACMG/ACOG-recommended 23 CFTR disease-causing mutations using ion torrent semiconductor sequencing. J Biomol Tech 23: 24-30.
    • (2012) J Biomol Tech , vol.23 , pp. 24-30
    • Elliott, A.M.1    Radecki, J.2    Moghis, B.3    Li, X.4    Kammesheidt, A.5
  • 20
    • 83655211930 scopus 로고    scopus 로고
    • Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing
    • Harismendy O, Schwab RB, Bao L, Olson J, Rozenzhak S, et al. (2011) Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing. Genome Biol 12: R124.
    • (2011) Genome Biol , vol.12
    • Harismendy, O.1    Schwab, R.B.2    Bao, L.3    Olson, J.4    Rozenzhak, S.5
  • 21
    • 79958132127 scopus 로고    scopus 로고
    • Mutation analysis ion channel genes ventricular fibrillation survivors with coronary artery disease
    • Novotny T, Kadlecova J, Raudenska M, Bittnerova A, Andrsova I, et al. (2011) Mutation analysis ion channel genes ventricular fibrillation survivors with coronary artery disease. Pacing Clin Electrophysiol 34: 742-749.
    • (2011) Pacing Clin Electrophysiol , vol.34 , pp. 742-749
    • Novotny, T.1    Kadlecova, J.2    Raudenska, M.3    Bittnerova, A.4    Andrsova, I.5
  • 22
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Rozen S, Skaletsky H, (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132: 365-386.
    • (2000) Methods Mol Biol , vol.132 , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 23
    • 84872596130 scopus 로고    scopus 로고
    • Next Generation Diagnostics in Inherited Arrhythmia Syndromes: A Comparison of Two Approaches
    • Ware JS, John S, Roberts AM, Buchan R, Gong S, et al. (2013) Next Generation Diagnostics in Inherited Arrhythmia Syndromes: A Comparison of Two Approaches. J Cardiovasc Transl Res.
    • (2013) J Cardiovasc Transl Res
    • Ware, J.S.1    John, S.2    Roberts, A.M.3    Buchan, R.4    Gong, S.5
  • 24
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R, (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754-1760.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 25
    • 77951770756 scopus 로고    scopus 로고
    • BEDTools: a flexible suite of utilities for comparing genomic features
    • Quinlan AR, Hall IM, (2010) BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26: 841-842.
    • (2010) Bioinformatics , vol.26 , pp. 841-842
    • Quinlan, A.R.1    Hall, I.M.2
  • 26
    • 77956295988 scopus 로고    scopus 로고
    • The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
    • McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, et al. (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20: 1297-1303.
    • (2010) Genome Res , vol.20 , pp. 1297-1303
    • McKenna, A.1    Hanna, M.2    Banks, E.3    Sivachenko, A.4    Cibulskis, K.5
  • 27
    • 77954091424 scopus 로고    scopus 로고
    • Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries
    • Mokry M, Feitsma H, Nijman IJ, de Bruijn E, van der Zaag PJ, et al. (2010) Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries. Nucleic Acids Res 38: e116.
    • (2010) Nucleic Acids Res , vol.38
    • Mokry, M.1    Feitsma, H.2    Nijman, I.J.3    de Bruijn, E.4    van der Zaag, P.J.5
  • 28
    • 79957486466 scopus 로고    scopus 로고
    • Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies
    • Meder B, Haas J, Keller A, Heid C, Just S, et al. (2011) Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet 4: 110-122.
    • (2011) Circ Cardiovasc Genet , vol.4 , pp. 110-122
    • Meder, B.1    Haas, J.2    Keller, A.3    Heid, C.4    Just, S.5
  • 33
    • 84863877251 scopus 로고    scopus 로고
    • Paralogous annotation of disease-causing variants in long QT syndrome genes
    • Ware JS, Walsh R, Cunningham F, Birney E, Cook SA, (2012) Paralogous annotation of disease-causing variants in long QT syndrome genes. Hum Mutat 33: 1188-1191.
    • (2012) Hum Mutat , vol.33 , pp. 1188-1191
    • Ware, J.S.1    Walsh, R.2    Cunningham, F.3    Birney, E.4    Cook, S.A.5
  • 34
    • 79955708249 scopus 로고    scopus 로고
    • Comparison of three targeted enrichment strategies on the SOLiD sequencing platform
    • Hedges DJ, Guettouche T, Yang S, Bademci G, Diaz A, et al. (2011) Comparison of three targeted enrichment strategies on the SOLiD sequencing platform. PLoS One 6: e18595.
    • (2011) PLoS One , vol.6
    • Hedges, D.J.1    Guettouche, T.2    Yang, S.3    Bademci, G.4    Diaz, A.5
  • 35
    • 80052830541 scopus 로고    scopus 로고
    • Comparison of solution-based exome capture methods for next generation sequencing
    • Sulonen AM, Ellonen P, Almusa H, Lepisto M, Eldfors S, et al. (2011) Comparison of solution-based exome capture methods for next generation sequencing. Genome Biol 12: R94.
    • (2011) Genome Biol , vol.12
    • Sulonen, A.M.1    Ellonen, P.2    Almusa, H.3    Lepisto, M.4    Eldfors, S.5
  • 36
    • 75349097525 scopus 로고    scopus 로고
    • Enrichment of sequencing targets from the human genome by solution hybridization
    • Tewhey R, Nakano M, Wang X, Pabon-Pena C, Novak B, et al. (2009) Enrichment of sequencing targets from the human genome by solution hybridization. Genome Biol 10: R116.
    • (2009) Genome Biol , vol.10
    • Tewhey, R.1    Nakano, M.2    Wang, X.3    Pabon-Pena, C.4    Novak, B.5
  • 37
    • 0024282746 scopus 로고
    • Fidelity of DNA synthesis by the Thermus aquaticus DNA polymerase
    • Tindall KR, Kunkel TA, (1988) Fidelity of DNA synthesis by the Thermus aquaticus DNA polymerase. Biochemistry 27: 6008-6013.
    • (1988) Biochemistry , vol.27 , pp. 6008-6013
    • Tindall, K.R.1    Kunkel, T.A.2
  • 38
    • 26944485507 scopus 로고    scopus 로고
    • Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing
    • Tester DJ, Kopplin LJ, Will ML, Ackerman MJ, (2005) Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm 2: 1099-1105.
    • (2005) Heart Rhythm , vol.2 , pp. 1099-1105
    • Tester, D.J.1    Kopplin, L.J.2    Will, M.L.3    Ackerman, M.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.