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Volumn 7, Issue 1, 2014, Pages 133-137

Non optical semi-conductor next generation sequencing of the main cardiac QT-interval duration genes in pooled DNA samples

Author keywords

Cardiac arrhythmia genes; DNA pools; Ion torrent sequencing; Next generation sequencing

Indexed keywords

DNA;

EID: 84896708369     PISSN: 19375387     EISSN: 19375395     Source Type: Journal    
DOI: 10.1007/s12265-013-9516-6     Document Type: Article
Times cited : (17)

References (17)
  • 2
    • 84860120316 scopus 로고    scopus 로고
    • Sudden cardiac death and genetic ion channelopathies: Long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation
    • 22529064 10.1161/CIRCULATIONAHA.111.055947
    • Napolitano, C., Bloise, R., Monteforte, N., et al. (2012). Sudden cardiac death and genetic ion channelopathies: long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation. Circulation, 125, 2027-34.
    • (2012) Circulation , vol.125 , pp. 2027-2034
    • Napolitano, C.1    Bloise, R.2    Monteforte, N.3
  • 3
    • 70449359365 scopus 로고    scopus 로고
    • Genetic testing for long-QT syndrome: Distinguishing pathogenic mutations from benign variants
    • 1:CAS:528:DC%2BD1MXhtlensr%2FI 3025752 19841300 10.1161/CIRCULATIONAHA. 109.863076
    • Kapa, S., Tester, D. J., Salisbury, B. A., et al. (2009). Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation, 120, 1752-60.
    • (2009) Circulation , vol.120 , pp. 1752-1760
    • Kapa, S.1    Tester, D.J.2    Salisbury, B.A.3
  • 4
    • 84871630327 scopus 로고    scopus 로고
    • Genetic testing in heritable cardiac arrhythmia syndromes: Differentiating pathogenic mutations from background genetic noise
    • 3705648 23128497 10.1097/HCO.0b013e32835b0a41
    • Giudicessi, J. R., & Ackerman, M. J. (2013). Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise. Current Opinion in Cardiology, 28, 63-71.
    • (2013) Current Opinion in Cardiology , vol.28 , pp. 63-71
    • Giudicessi, J.R.1    Ackerman, M.J.2
  • 5
    • 34548158262 scopus 로고    scopus 로고
    • Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects
    • 1:CAS:528:DC%2BD2sXpsVaqs78%3D 2234597 17534376 10.1038/sj.ejhg.5201866
    • Gouas, L., Nicaud, V., Chaouch, S., et al. (2007). Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects. European Journal of Human Genetics, 15, 974-9.
    • (2007) European Journal of Human Genetics , vol.15 , pp. 974-979
    • Gouas, L.1    Nicaud, V.2    Chaouch, S.3
  • 6
    • 61849152430 scopus 로고    scopus 로고
    • Common candidate gene variants are associated with QT interval duration in the general population
    • 1:CAS:528:DC%2BD1MXkvVGqt7w%3D 2668713 19019189 10.1111/j.1365-2796.2008. 02026.x
    • Marjamaa, A., Newton-Cheh, C., Porthan, K., et al. (2009). Common candidate gene variants are associated with QT interval duration in the general population. Journal of Internal Medicine, 265, 448-58.
    • (2009) Journal of Internal Medicine , vol.265 , pp. 448-458
    • Marjamaa, A.1    Newton-Cheh, C.2    Porthan, K.3
  • 7
    • 0037161355 scopus 로고    scopus 로고
    • Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes
    • 1:CAS:528:DC%2BD38XktFajurw%3D 11997281 10.1161/01.CIR.0000014448.19052. 4C
    • Yang, P., Kanki, H., Drolet, B., et al. (2002). Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation, 105, 1943-8.
    • (2002) Circulation , vol.105 , pp. 1943-1948
    • Yang, P.1    Kanki, H.2    Drolet, B.3
  • 8
    • 5444264579 scopus 로고    scopus 로고
    • Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients
    • 1:CAS:528:DC%2BD2cXhsl2hsLs%3D 14760488 10.1007/s00109-003-0522-z
    • Paulussen, A. D., Gilissen, R. A., Armstrong, M., et al. (2004). Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. Journal of Molecular Medicine, 82, 182-8.
    • (2004) Journal of Molecular Medicine , vol.82 , pp. 182-188
    • Paulussen, A.D.1    Gilissen, R.A.2    Armstrong, M.3
  • 9
    • 79960597679 scopus 로고    scopus 로고
    • An integrated semiconductor device enabling non-optical genome sequencing
    • 1:CAS:528:DC%2BC3MXpt1aqtrs%3D 21776081 10.1038/nature10242
    • Rothberg, J. M., Hinz, W., Rearick, T. M., et al. (2011). An integrated semiconductor device enabling non-optical genome sequencing. Nature, 475, 348-52.
    • (2011) Nature , vol.475 , pp. 348-352
    • Rothberg, J.M.1    Hinz, W.2    Rearick, T.M.3
  • 10
    • 84860756398 scopus 로고    scopus 로고
    • Performance comparison of benchtop high-throughput sequencing platforms
    • 1:CAS:528:DC%2BC38XlvVKltrc%3D 22522955 10.1038/nbt.2198
    • Loman, N. J., Misra, R. V., Dallman, T. J., et al. (2012). Performance comparison of benchtop high-throughput sequencing platforms. Nature Biotechnology, 30, 434-9.
    • (2012) Nature Biotechnology , vol.30 , pp. 434-439
    • Loman, N.J.1    Misra, R.V.2    Dallman, T.J.3
  • 11
    • 84865591846 scopus 로고    scopus 로고
    • A tale of three next generation sequencing platforms: Comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers
    • 1:CAS:528:DC%2BC38Xhslaju7zI 3431227 22827831 10.1186/1471-2164-13-341
    • Quail, M. A., 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
  • 12
    • 84859452678 scopus 로고    scopus 로고
    • Rapid detection of the ACMG/ACOG-recommended 23 CFTR disease-causing mutations using ion torrent semiconductor sequencing
    • 22468138 10.7171/jbt.12-2301-003
    • Elliott, A. M., Radecki, J., Moghis, B., et al. (2012). Rapid detection of the ACMG/ACOG-recommended 23 CFTR disease-causing mutations using ion torrent semiconductor sequencing. Journal of Biomolecular Techniques, 23, 24-30.
    • (2012) Journal of Biomolecular Techniques , vol.23 , pp. 24-30
    • Elliott, A.M.1    Radecki, J.2    Moghis, B.3
  • 13
    • 84875519657 scopus 로고    scopus 로고
    • Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting
    • 1:CAS:528:DC%2BC3sXksFKrs7c%3D 23315985 10.1002/humu.22184
    • Costa, J. L., Sousa, S., Justino, A., et al. (2013). Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting. Human Mutation, 34, 629-35.
    • (2013) Human Mutation , vol.34 , pp. 629-635
    • Costa, J.L.1    Sousa, S.2    Justino, A.3
  • 14
    • 84879813568 scopus 로고    scopus 로고
    • Towards clinical molecular diagnosis of inherited cardiac conditions: A comparison of bench-top genome DNA sequencers
    • 1:CAS:528:DC%2BC3sXhtFOmt7bM 3701544 23861798 10.1371/journal.pone. 0067744
    • Li, X., Buckton, A. J., Wilkinson, S. L., et al. (2013). Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers. PLoS One, 8, e67744.
    • (2013) PLoS One , vol.8 , pp. 67744
    • Li, X.1    Buckton, A.J.2    Wilkinson, S.L.3
  • 15
    • 65249131713 scopus 로고    scopus 로고
    • Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
    • 1:CAS:528:DC%2BD1MXksVOltr8%3D 2707798 19264985 10.1126/science.1167728
    • Nejentsev, S., Walker, N., Riches, D., et al. (2009). Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science, 324, 387-9.
    • (2009) Science , vol.324 , pp. 387-389
    • Nejentsev, S.1    Walker, N.2    Riches, D.3
  • 16
    • 84868030363 scopus 로고    scopus 로고
    • Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early onset and familial Alzheimer's disease Ibero-American cohort
    • 1:CAS:528:DC%2BC38Xhsl2jsb7P 10.1186/alzrt137
    • Jin, S. C., Pastor, P., Cooper, B., et al. (2012). Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early onset and familial Alzheimer's disease Ibero-American cohort. Alzheimer's Research & Therapy, 4, 34.
    • (2012) Alzheimer's Research & Therapy , vol.4 , pp. 34
    • Jin, S.C.1    Pastor, P.2    Cooper, B.3
  • 17
    • 79960556069 scopus 로고    scopus 로고
    • Genomic DNA pooling strategy for next-generation sequencing-based rare variant discovery in abdominal aortic aneurysm regions of interest-challenges and limitations
    • 3099005 21360310 10.1007/s12265-011-9263-5
    • Harakalova, M., Nijman, I. J., Medic, J., et al. (2011). Genomic DNA pooling strategy for next-generation sequencing-based rare variant discovery in abdominal aortic aneurysm regions of interest-challenges and limitations. Journal of Cardiovascular Translational Research, 4, 271-80.
    • (2011) Journal of Cardiovascular Translational Research , vol.4 , pp. 271-280
    • Harakalova, M.1    Nijman, I.J.2    Medic, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.