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Volumn 12, Issue 1, 2012, Pages 25-37

How novel molecular diagnostic technologies and biomarkers are revolutionizing genetic testing and patient care

Author keywords

array comparative genomic hybridization; cell free nucleic acid; chromosomal microarray; circulating nucleic acid; companion diagnostics; fetal DNA; massively parallel sequencing; microRNA; miRNA; molecular diagnostics; next generation sequencing; personalized medicine

Indexed keywords

CETUXIMAB; IMATINIB; MICRORNA; TRASTUZUMAB; VEMURAFENIB;

EID: 82955189198     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/erm.11.85     Document Type: Review
Times cited : (18)

References (105)
  • 1
    • 79960444234 scopus 로고    scopus 로고
    • Therapy-, gender- and race-specific microRNA markers, target genes and networks related to glioblastoma recurrence and survival
    • Delfino KR, Serão NVL, Southey BR, Rodriguez-Zas SL. Therapy-, gender- and race-specific microRNA markers, target genes and networks related to glioblastoma recurrence and survival. Cancer Genomics Proteomics 8(4), 173-183 (2011).
    • (2011) Cancer Genomics Proteomics , vol.8 , Issue.4 , pp. 173-183
    • Delfino, K.R.1    Serão, N.V.L.2    Southey, B.R.3    Rodriguez-Zas, S.L.4
  • 2
    • 82955172675 scopus 로고    scopus 로고
    • MicroRNAs in human diseases: From cancer to cardiovascular disease
    • Extensive review of miRNA function, biogenesis and clinical applications
    • Ha TY. MicroRNAs in human diseases: From cancer to cardiovascular disease. Immune Netw. 11(3), 135-154 (2011). Extensive review of miRNA function, biogenesis and clinical applications.
    • (2011) Immune Netw. , vol.11 , Issue.3 , pp. 135-154
    • Ha, T.Y.1
  • 5
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies-The next generation
    • Detailed review of many current next-generation sequencing platforms
    • Metzker ML. Sequencing technologies-the next generation. Nat. Rev. Genet. 11(1), 31-46 (2010). Detailed review of many current next-generation sequencing platforms.
    • (2010) Nat. Rev. Genet. , vol.11 , Issue.1 , pp. 31-46
    • Metzker, M.L.1
  • 6
    • 79551509739 scopus 로고    scopus 로고
    • The next generation: Using new sequencing technologies to analyse gene regulation
    • Cullum R, Alder O, Hoodless PA. The next generation: Using new sequencing technologies to analyse gene regulation. Respirology 16(2), 210-222 (2011).
    • (2011) Respirology , vol.16 , Issue.2 , pp. 210-222
    • Cullum, R.1    Alder, O.2    Hoodless, P.A.3
  • 7
    • 62049085786 scopus 로고    scopus 로고
    • Transcriptome sequencing to detect gene fusions in cancer
    • Maher CA, Kumar-Sinha C, Cao X et al. Transcriptome sequencing to detect gene fusions in cancer. Nature 458(7234), 97-101 (2009).
    • (2009) Nature , vol.458 , Issue.7234 , pp. 97-101
    • Maher, C.A.1    Kumar-Sinha, C.2    Cao, X.3
  • 9
    • 33644857153 scopus 로고    scopus 로고
    • BTA, a novel reagent for DNA attachment on glass and efficient generation of solid-phase amplified DNA colonies
    • Fedurco M, Romieu A, Williams S, Lawrence I, Turcatti G. BTA, a novel reagent for DNA attachment on glass and efficient generation of solid-phase amplified DNA colonies. Nucleic Acids Res. 34(3), e22 (2006).
    • (2006) Nucleic Acids Res. , vol.34 , Issue.3
    • Fedurco, M.1    Romieu, A.2    Williams, S.3    Lawrence, I.4    Turcatti, G.5
  • 11
    • 77956642100 scopus 로고    scopus 로고
    • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    • Ng SB, Bigham AW, Buckingham KJ et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat. Genet. 42(9), 790-793 (2010).
    • (2010) Nat. Genet. , vol.42 , Issue.9 , pp. 790-793
    • Ng, S.B.1    Bigham, A.W.2    Buckingham, K.J.3
  • 12
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a mendelian disorder
    • Ng SB, Buckingham KJ, Lee C et al. Exome sequencing identifies the cause of a mendelian disorder. Nat. Genet. 42(1), 30-35 (2010).
    • (2010) Nat. Genet. , vol.42 , Issue.1 , pp. 30-35
    • Ng, S.B.1    Buckingham, K.J.2    Lee, C.3
  • 13
    • 77950475726 scopus 로고    scopus 로고
    • Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    • Lupski JR, Reid JG, Gonzaga-Jauregui C et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N. Engl. J. Med. 362(13), 1181-1191 (2010).
    • (2010) N. Engl. J. Med. , vol.362 , Issue.13 , pp. 1181-1191
    • Lupski, J.R.1    Reid, J.G.2    Gonzaga-Jauregui, C.3
  • 14
    • 80052584397 scopus 로고    scopus 로고
    • Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms
    • Regalado ES, Guo DC, Villamizar C et al. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ. Res. 109(6), 680-686 (2011).
    • (2011) Circ. Res. , vol.109 , Issue.6 , pp. 680-686
    • Regalado, E.S.1    Guo, D.C.2    Villamizar, C.3
  • 15
    • 80054680488 scopus 로고    scopus 로고
    • Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy
    • Galmiche L, Serre V, Beinat M et al. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. Hum. Mut. 32(11), 1225-1231 (2011).
    • (2011) Hum. Mut. , vol.32 , Issue.11 , pp. 1225-1231
    • Galmiche, L.1    Serre, V.2    Beinat, M.3
  • 16
    • 79959752614 scopus 로고    scopus 로고
    • Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
    • Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat. Genet. 43(7), 663-667 (2011).
    • (2011) Nat. Genet. , vol.43 , Issue.7 , pp. 663-667
    • Comino-Mendez, I.1    Gracia-Aznarez, F.J.2    Schiavi, F.3
  • 17
    • 79953842000 scopus 로고    scopus 로고
    • Update 2011: Clinical and genetic issues in familial dilated cardiomyopathy
    • Hershberger RE, Siegfried JD. Update 2011: Clinical and genetic issues in familial dilated cardiomyopathy. J. Am. Coll. Card. 57(16), 1641-1649 (2011).
    • (2011) J. Am. Coll. Card. , vol.57 , Issue.16 , pp. 1641-1649
    • Hershberger, R.E.1    Siegfried, J.D.2
  • 18
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • Shendure J, Ji H. Next-generation DNA sequencing. Nat. Biotech. 26(10), 1135-1145 (2008).
    • (2008) Nat. Biotech. , vol.26 , Issue.10 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 19
    • 52649157765 scopus 로고    scopus 로고
    • Substantial biases in ultra-short read data sets from high-throughput DNA sequencing
    • Dohm JC, Lottaz C, Borodina T, Himmelbauer H. Substantial biases in ultra-short read data sets from high-throughput DNA sequencing. Nucleic Acids Res. 36(16), e105 (2008).
    • (2008) Nucleic Acids Res. , vol.36 , Issue.16
    • Dohm, J.C.1    Lottaz, C.2    Borodina, T.3    Himmelbauer, H.4
  • 20
    • 79953826567 scopus 로고    scopus 로고
    • Next-generation sequencing and its applications in molecular diagnostics
    • Su Z, Ning B, Fang H et al. Next-generation sequencing and its applications in molecular diagnostics. Expert Rev. Mol. Diagn. 11(3), 333-343 (2011).
    • (2011) Expert Rev. Mol. Diagn. , vol.11 , Issue.3 , pp. 333-343
    • Su, Z.1    Ning, B.2    Fang, H.3
  • 21
    • 79955765689 scopus 로고    scopus 로고
    • Next-generation sequencing applied to molecular diagnostics
    • Natrajan R, Reis-Filho JS. Next-generation sequencing applied to molecular diagnostics. Expert Rev. Mol. Diagn. 11(4), 425-444 (2011).
    • (2011) Expert Rev. Mol. Diagn. , vol.11 , Issue.4 , pp. 425-444
    • Natrajan, R.1    Reis-Filho, J.S.2
  • 22
    • 39649084637 scopus 로고    scopus 로고
    • Bioinformatics challenges of new sequencing technology
    • Pop M, Salzberg SL. Bioinformatics challenges of new sequencing technology. Trends Genet. 24(3), 142-149 (2008).
    • (2008) Trends Genet. , vol.24 , Issue.3 , pp. 142-149
    • Pop, M.1    Salzberg, S.L.2
  • 23
    • 66149192669 scopus 로고    scopus 로고
    • How to map billions of short reads onto genomes
    • Trapnell C, Salzberg SL. How to map billions of short reads onto genomes. Nat. Biotech. 27(5), 455-457 (2009).
    • (2009) Nat. Biotech. , vol.27 , Issue.5 , pp. 455-457
    • Trapnell, C.1    Salzberg, S.L.2
  • 26
    • 80052705562 scopus 로고    scopus 로고
    • Next generation sequencing-implications for clinical practice
    • Raffan E, Semple RK. Next generation sequencing-implications for clinical practice. Br. Med. Bull. 99, 53-71 (2011).
    • (2011) Br. Med. Bull. , vol.99 , pp. 53-71
    • Raffan, E.1    Semple, R.K.2
  • 28
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • 1000 Genomes Project Consortium
    • -1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 467(7319), 1061-1073 (2010).
    • (2010) Nature , vol.467 , Issue.7319 , pp. 1061-1073
  • 29
    • 78049359286 scopus 로고    scopus 로고
    • Genomics. 1000 genomes project gives new map of genetic diversity
    • Pennisi E. Genomics. 1000 genomes project gives new map of genetic diversity. Science 330(6004), 574-575 (2010).
    • (2010) Science , vol.330 , Issue.6004 , pp. 574-575
    • Pennisi, E.1
  • 30
    • 79959309141 scopus 로고    scopus 로고
    • Deep sequencing of patient genomes for disease diagnosis: When will it become routine?
    • Kingsmore SF, Saunders CJ. Deep sequencing of patient genomes for disease diagnosis: When will it become routine? Sci. Transl. Med. 3(87), 87ps23 (2011).
    • (2011) Sci. Transl. Med. , vol.3 , Issue.87
    • Kingsmore, S.F.1    Saunders, C.J.2
  • 31
    • 78649620668 scopus 로고    scopus 로고
    • How to catch all those mutations-The report of the third human variome project meeting, UNESCO Paris
    • Kohonen-Corish MR, Al-Aama JY, Auerbach AD et al. How to catch all those mutations-the report of the third human variome project meeting, UNESCO Paris. Hum. Mut. 31(12), 1374-1381 (2010).
    • (2010) Hum. Mut. , vol.31 , Issue.12 , pp. 1374-1381
    • Kohonen-Corish, M.R.1    Al-Aama, J.Y.2    Auerbach, A.D.3
  • 32
    • 42149139456 scopus 로고    scopus 로고
    • ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
    • DOI 10.1097/GIM.0b013e31816b5cae, PII 0012581720080400000009
    • Richards CS, Bale S, Bellissimo DB et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet. Med. 10(4), 294-300 (2008). (Pubitemid 351544132)
    • (2008) Genetics in Medicine , vol.10 , Issue.4 , pp. 294-300
    • Richards, C.S.1    Bale, S.2    Bellissimo, D.B.3    Das, S.4    Grody, W.W.5    Hegde, M.R.6    Lyon, E.7    Ward, B.E.8
  • 33
    • 78651393550 scopus 로고    scopus 로고
    • Carrier testing for severe childhood recessive diseases by next-generation sequencing
    • Bell CJ, Dinwiddie DL, Miller NA et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci. Transl. Med. 3(65), 65ra64 (2011).
    • (2011) Sci. Transl. Med. , vol.3 , Issue.65
    • Bell, C.J.1    Dinwiddie, D.L.2    Miller, N.A.3
  • 34
    • 0025729359 scopus 로고
    • Fluorescence in situ hybridization: Applications in cytogenetics and gene mapping
    • Trask BJ. Fluorescence in situ hybridization: Applications in cytogenetics and gene mapping. Trends Genet. 7(5), 149-154 (1991). (Pubitemid 121001914)
    • (1991) Trends in Genetics , vol.7 , Issue.5 , pp. 149-154
    • Trask, B.J.1
  • 35
    • 0031004203 scopus 로고    scopus 로고
    • Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
    • DOI 10.1002/(SICI)1096-8628(19970331)69:3<325::AID-AJMG20>3.0.CO;2- S
    • Shaffer LG, Kennedy GM, Spikes AS, Lupski JR. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory. Am. J. Hum. Gen. 69(3), 325-331 (1997). (Pubitemid 27154678)
    • (1997) American Journal of Medical Genetics , vol.69 , Issue.3 , pp. 325-331
    • Shaffer, L.G.1    Kennedy, G.M.2    Spikes, A.S.3    Lupski, J.R.4
  • 36
    • 55949095205 scopus 로고    scopus 로고
    • Keeping up with the next generation: Massively parallel sequencing in clinical diagnostics
    • ten Bosch JR, Grody WW. Keeping up with the next generation: Massively parallel sequencing in clinical diagnostics. J Mol. Diagn. 10(6), 484-492 (2008).
    • (2008) J Mol. Diagn. , vol.10 , Issue.6 , pp. 484-492
    • Ten Bosch, J.R.1    Grody, W.W.2
  • 37
    • 79953724351 scopus 로고    scopus 로고
    • Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research
    • Talkowski ME, Ernst C, Heilbut A et al. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am. J. Hum. Genet. 88(4), 469-481 (2011).
    • (2011) Am. J. Hum. Genet. , vol.88 , Issue.4 , pp. 469-481
    • Talkowski, M.E.1    Ernst, C.2    Heilbut, A.3
  • 38
    • 77951977961 scopus 로고    scopus 로고
    • Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability
    • Regier DA, Friedman JM, Marra CA. Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability. Am. J. Hum. Genet. 86(5), 765-772 (2010).
    • (2010) Am. J. Hum. Genet. , vol.86 , Issue.5 , pp. 765-772
    • Regier, D.A.1    Friedman, J.M.2    Marra, C.A.3
  • 39
    • 52949096853 scopus 로고    scopus 로고
    • Clinical utility of contemporary molecular cytogenetics
    • Comprehensive review of contemporary molecular cytogenetic techniques in research and diagnostics
    • Bejjani BA, Shaffer LG. Clinical utility of contemporary molecular cytogenetics. Ann. Rev. Genom. Hum. Genet. 9, 71-86 (2008). Comprehensive review of contemporary molecular cytogenetic techniques in research and diagnostics.
    • (2008) Ann. Rev. Genom. Hum. Genet. , vol.9 , pp. 71-86
    • Bejjani, B.A.1    Shaffer, L.G.2
  • 40
    • 78649635514 scopus 로고    scopus 로고
    • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
    • Manning M, Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet. Med. 12(11), 742-745 (2010).
    • (2010) Genet. Med. , vol.12 , Issue.11 , pp. 742-745
    • Manning, M.1    Hudgins, L.2
  • 41
    • 9444222468 scopus 로고    scopus 로고
    • Microarray-based comparative genomic hybridization and its applications in human genetics
    • DOI 10.1111/j.1399-0004.2004.00322.x
    • Oostlander AE, Meijer GA, Ylstra B. Microarray-based comparative genomic hybridization and its applications in human genetics. Clin. Genet. 66(6), 488-495 (2004). (Pubitemid 39562010)
    • (2004) Clinical Genetics , vol.66 , Issue.6 , pp. 488-495
    • Oostlander, A.E.1    Meijer, G.A.2    Ylstra, B.3
  • 43
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • Evidence-based summary of clinical chromosomal microarray testing compared with G-banded karyotyping
    • Miller DT, Adam MP, Aradhya S et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Gen. 86(5), 749-764 (2010). Evidence-based summary of clinical chromosomal microarray testing compared with G-banded karyotyping.
    • (2010) Am. J. Hum. Gen. , vol.86 , Issue.5 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3
  • 46
    • 35649021296 scopus 로고    scopus 로고
    • Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization
    • DOI 10.1002/humu.20581
    • Fan YS, Jayakar P, Zhu H et al. Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum. Mut. 28(11), 1124-1132 (2007). (Pubitemid 350036917)
    • (2007) Human Mutation , vol.28 , Issue.11 , pp. 1124-1132
    • Fan, Y.-S.1    Jayakar, P.2    Zhu, H.3    Barbouth, D.4    Sacharow, S.5    Morales, A.6    Carver, V.7    Benke, P.8    Mundy, P.9    Elsas, L.J.10
  • 47
    • 77957750796 scopus 로고    scopus 로고
    • Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing
    • Tester DJ, Benton AJ, Train L, Deal B, Baudhuin LM, Ackerman MJ. Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing. Am. J. Cardiol. 106(8), 1124-1128 (2010).
    • (2010) Am. J. Cardiol. , vol.106 , Issue.8 , pp. 1124-1128
    • Tester, D.J.1    Benton, A.J.2    Train, L.3    Deal, B.4    Baudhuin, L.M.5    Ackerman, M.J.6
  • 48
    • 78650579692 scopus 로고    scopus 로고
    • Screening for copy number variation in genes associated with the long QT syndrome: Clinical relevance
    • Barc J, Briec F, Schmitt S et al. Screening for copy number variation in genes associated with the long QT syndrome: Clinical relevance. J. Am. Coll. Cardiol. 57(1), 40-47 (2011).
    • (2011) J. Am. Coll. Cardiol. , vol.57 , Issue.1 , pp. 40-47
    • Barc, J.1    Briec, F.2    Schmitt, S.3
  • 50
    • 78751684346 scopus 로고    scopus 로고
    • Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice
    • Beaudet AL. Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice. Genome Med. 2(7), 42 (2010).
    • (2010) Genome Med. , vol.2 , Issue.7 , pp. 42
    • Beaudet, A.L.1
  • 52
    • 79957694165 scopus 로고    scopus 로고
    • Progress toward noninvasive prenatal diagnosis
    • Provides an excellent basic overview of the field of noninvasive prenatal diagnosis
    • Beaudet AL. Progress toward noninvasive prenatal diagnosis. Clin. Chem. 57(6), 802-804 (2011). Provides an excellent basic overview of the field of noninvasive prenatal diagnosis.
    • (2011) Clin. Chem. , vol.57 , Issue.6 , pp. 802-804
    • Beaudet, A.L.1
  • 56
    • 59649114083 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal blood group phenotypes: Current practice and future prospects
    • Daniels G, Finning K, Martin P, Massey E. Noninvasive prenatal diagnosis of fetal blood group phenotypes: Current practice and future prospects. Prenat. Diagn. 29(2), 101-107 (2009).
    • (2009) Prenat. Diagn. , vol.29 , Issue.2 , pp. 101-107
    • Daniels, G.1    Finning, K.2    Martin, P.3    Massey, E.4
  • 57
    • 59649096216 scopus 로고    scopus 로고
    • Report of the third international workshop on molecular blood group genotyping
    • Daniels G, van der Schoot CE, Gassner C, Olsson ML. Report of the third international workshop on molecular blood group genotyping. Vox Sang. 96(4), 337-343 (2009).
    • (2009) Vox Sang. , vol.96 , Issue.4 , pp. 337-343
    • Daniels, G.1    Van Der Schoot, C.E.2    Gassner, C.3    Olsson, M.L.4
  • 58
    • 80052714987 scopus 로고    scopus 로고
    • Noninvasive fetal blood group genotyping of rhesus D, C, E and of K in alloimmunised pregnant women: Evaluation of a 7-year clinical experience
    • Scheffer P, van der Schoot C, Page-Christiaens G, de Haas M. Noninvasive fetal blood group genotyping of rhesus D, C, E and of K in alloimmunised pregnant women: Evaluation of a 7-year clinical experience. BJOG 118(11), 1340-1348 (2011).
    • (2011) BJOG , vol.118 , Issue.11 , pp. 1340-1348
    • Scheffer, P.1    Van Der Schoot, C.2    Page-Christiaens, G.3    De Haas, M.4
  • 61
    • 78751683468 scopus 로고    scopus 로고
    • Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study
    • Chiu RW, Akolekar R, Zheng YW et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study. BMJ 342, c7401 (2011).
    • (2011) BMJ , vol.342
    • Chiu, R.W.1    Akolekar, R.2    Zheng, Y.W.3
  • 64
    • 2642540027 scopus 로고    scopus 로고
    • Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms
    • DOI 10.1373/clinchem.2003.029835
    • Li Y, Zimmermann B, Rusterholz C, Kang A, Holzgreve W, Hahn S. Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms. Clin. Chem. 50(6), 1002-1011 (2004). (Pubitemid 38725787)
    • (2004) Clinical Chemistry , vol.50 , Issue.6 , pp. 1002-1011
    • Li, Y.1    Zimmermann, B.2    Rusterholz, C.3    Kang, A.4    Holzgreve, W.5    Hahn, S.6
  • 65
    • 13844269123 scopus 로고    scopus 로고
    • Detection of paternally inherited fetal point mutations for β-thalassemia using size-fractionated cell-free DNA in maternal plasma
    • DOI 10.1001/jama.293.7.843
    • Li Y, Di Naro E, Vitucci A, Zimmermann B, Holzgreve W, Hahn S. Detection of paternally inherited fetal point mutations for b-thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA 293(7), 843-849 (2005). (Pubitemid 40250368)
    • (2005) Journal of the American Medical Association , vol.293 , Issue.7 , pp. 843-849
    • Li, Y.1    Di Naro, E.2    Vitucci, A.3    Zimmermann, B.4    Holzgreve, W.5    Hahn, S.6
  • 66
    • 9644273981 scopus 로고    scopus 로고
    • Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma - Case report
    • DOI 10.1002/pd.1030
    • Li Y, Holzgreve W, Page-Christiaens GC, Gille JJ, Hahn S. Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma-case report. Prenat. Diag. 24(11), 896-898 (2004). (Pubitemid 39576805)
    • (2004) Prenatal Diagnosis , vol.24 , Issue.11 , pp. 896-898
    • Li, Y.1    Holzgreve, W.2    Page-Christiaens, G.C.M.L.3    Gille, J.J.P.4    Hahn, S.5
  • 67
    • 78650965964 scopus 로고    scopus 로고
    • Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles
    • Liao GJ, Lun FM, Zheng YW et al. Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles. Clin. Chem. 57(1), 92-101 (2011).
    • (2011) Clin. Chem. , vol.57 , Issue.1 , pp. 92-101
    • Liao, G.J.1    Lun, F.M.2    Zheng, Y.W.3
  • 68
    • 0027751663 scopus 로고
    • The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14
    • DOI 10.1016/0092-8674(93)90529-Y
    • Lee RC, Feinbaum RL, Ambros V. The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14. Cell 75(5), 843-854 (1993). (Pubitemid 24014542)
    • (1993) Cell , vol.75 , Issue.5 , pp. 843-854
    • Lee, R.C.1    Feinbaum, R.L.2    Ambros, V.3
  • 69
    • 77958462907 scopus 로고    scopus 로고
    • Origins and evolution of microRNA genes in Drosophila species
    • Nozawa M, Miura S, Nei M. Origins and evolution of microRNA genes in Drosophila species. Genome Biol. Evol. 2, 180-189 (2010).
    • (2010) Genome Biol. Evol. , vol.2 , pp. 180-189
    • Nozawa, M.1    Miura, S.2    Nei, M.3
  • 70
    • 52449110023 scopus 로고    scopus 로고
    • Measuring microRNAs: Comparisons of microarray and quantitative PCR measurements, and of different total RNA prep methods
    • Ach RA, Wang H, Curry B. Measuring microRNAs: Comparisons of microarray and quantitative PCR measurements, and of different total RNA prep methods. BMC Biotechnol. 8, 69 (2008).
    • (2008) BMC Biotechnol. , vol.8 , pp. 69
    • Ach, R.A.1    Wang, H.2    Curry, B.3
  • 71
    • 80052819876 scopus 로고    scopus 로고
    • Ultrasensitive multiplexed microRNA quantification on encoded gel microparticles using rolling circle amplification
    • Chapin SC, Doyle PS. Ultrasensitive multiplexed microRNA quantification on encoded gel microparticles using rolling circle amplification. Analyt. Chem. 83(18), 7179-7185 (2011).
    • (2011) Analyt. Chem. , vol.83 , Issue.18 , pp. 7179-7185
    • Chapin, S.C.1    Doyle, P.S.2
  • 72
    • 58149179989 scopus 로고    scopus 로고
    • MiR2 disease: A manually curated database for microRNA deregulation in human disease
    • Jiang Q, Wang Y, Hao Y et al. miR2 disease: A manually curated database for microRNA deregulation in human disease. Nucleic Acids Res. 37(Suppl. 1), D98-D104 (2009).
    • (2009) Nucleic Acids Res. , vol.37 , Issue.SUPPL. 1
    • Jiang, Q.1    Wang, Y.2    Hao, Y.3
  • 73
    • 80052758645 scopus 로고    scopus 로고
    • A resource of vectors and ES cells for targeted deletion of microRNAs in mice
    • Prosser HM, Koike-Yusa H, Cooper JD, Law FC, Bradley A. A resource of vectors and ES cells for targeted deletion of microRNAs in mice. Nat. Biotechnol. 29(9), 840-845 (2011).
    • (2011) Nat. Biotechnol. , vol.29 , Issue.9 , pp. 840-845
    • Prosser, H.M.1    Koike-Yusa, H.2    Cooper, J.D.3    Law, F.C.4    Bradley, A.5
  • 74
    • 78650046221 scopus 로고    scopus 로고
    • Complete characterization of the microRNAome in a patient with acute myeloid leukemia
    • Ramsingh G, Koboldt DC, Trissal M et al. Complete characterization of the microRNAome in a patient with acute myeloid leukemia. Blood 116(24), 5316-5326 (2010).
    • (2010) Blood , vol.116 , Issue.24 , pp. 5316-5326
    • Ramsingh, G.1    Koboldt, D.C.2    Trissal, M.3
  • 75
    • 62549109089 scopus 로고    scopus 로고
    • Profiling of 95 microRNAs in pancreatic cancer cell lines and surgical specimens by real-time PCR analysis
    • Zhang Y, Li M, Wang H et al. Profiling of 95 microRNAs in pancreatic cancer cell lines and surgical specimens by real-time PCR analysis. World J. Surg. 33(4), 698-709 (2009).
    • (2009) World J. Surg. , vol.33 , Issue.4 , pp. 698-709
    • Zhang, Y.1    Li, M.2    Wang, H.3
  • 76
    • 77953139378 scopus 로고    scopus 로고
    • Validation of a microRNA-based qRT-PCR test for accurate identification of tumor tissue origin
    • Rosenwald S, Gilad S, Benjamin S et al. Validation of a microRNA-based qRT-PCR test for accurate identification of tumor tissue origin. Mod. Pathol. 23(6), 814-823 (2010).
    • (2010) Mod. Pathol. , vol.23 , Issue.6 , pp. 814-823
    • Rosenwald, S.1    Gilad, S.2    Benjamin, S.3
  • 77
    • 78651080394 scopus 로고    scopus 로고
    • Validation and reproducibility of a microarray-based gene expression test for tumor identification in formalin-fixed, paraffin-embedded specimens
    • Pillai R, Deeter R, Rigl CT et al. Validation and reproducibility of a microarray-based gene expression test for tumor identification in formalin-fixed, paraffin-embedded specimens. J. Mol. Diagn. 13(1), 48-56 (2011).
    • (2011) J. Mol. Diagn. , vol.13 , Issue.1 , pp. 48-56
    • Pillai, R.1    Deeter, R.2    Rigl, C.T.3
  • 78
    • 82955183211 scopus 로고    scopus 로고
    • Clinical significance of microRNA expression profiles and polymorphisms in lung cancer development and management
    • Megiorni F, Pizzuti A, Frati L. Clinical significance of microRNA expression profiles and polymorphisms in lung cancer development and management. Pathol. Res. Int. 2011, 780652 (2011).
    • (2011) Pathol. Res. Int. , vol.2011 , pp. 780652
    • Megiorni, F.1    Pizzuti, A.2    Frati, L.3
  • 79
    • 79959923298 scopus 로고    scopus 로고
    • MicroRNAs and lung cancer: From markers to targets
    • Sozzi G, Pastorino U, Croce CM. MicroRNAs and lung cancer: From markers to targets. Cell Cycle 10(13), 2045-1046 (2011).
    • (2011) Cell Cycle , vol.10 , Issue.13 , pp. 2045-1046
    • Sozzi, G.1    Pastorino, U.2    Croce, C.M.3
  • 80
    • 79960957682 scopus 로고    scopus 로고
    • A serum circulating miRNA diagnostic test to identify asymptomatic high-risk individuals with early stage lung cancer
    • Bianchi F, Nicassio F, Marzi M et al. A serum circulating miRNA diagnostic test to identify asymptomatic high-risk individuals with early stage lung cancer. EMBO Mol. Med. 3(8), 495-503 (2011).
    • (2011) EMBO Mol. Med. , vol.3 , Issue.8 , pp. 495-503
    • Bianchi, F.1    Nicassio, F.2    Marzi, M.3
  • 81
    • 77649253288 scopus 로고    scopus 로고
    • MicroRNAs add a new dimension to cardiovascular disease
    • Excellent review focusing on the role of miRNAs in cardiovascular biology and as biomarkers of disease
    • Small EM, Frost RJA, Olson EN. MicroRNAs add a new dimension to cardiovascular disease. Circulation 121(8), 1022-1032 (2010). Excellent review focusing on the role of miRNAs in cardiovascular biology and as biomarkers of disease.
    • (2010) Circulation , vol.121 , Issue.8 , pp. 1022-1032
    • Small, E.M.1    Frost, R.J.A.2    Olson, E.N.3
  • 82
    • 68649092030 scopus 로고    scopus 로고
    • MicroRNA: Implications for Alzheimer disease and other human CNS disorders
    • Maes OC, Chertkow HM, Wang E, Schipper HM. MicroRNA: Implications for Alzheimer disease and other human CNS disorders. Curr. Genomics 10(3), 154-168 (2009).
    • (2009) Curr. Genomics , vol.10 , Issue.3 , pp. 154-168
    • Maes, O.C.1    Chertkow, H.M.2    Wang, E.3    Schipper, H.M.4
  • 83
    • 79551592245 scopus 로고    scopus 로고
    • Mirnome analysis reveals novel molecular determinants in the pathogenesis of diet-induced nonalcoholic fatty liver disease
    • Alisi A, Da Sacco L, Bruscalupi G et al. Mirnome analysis reveals novel molecular determinants in the pathogenesis of diet-induced nonalcoholic fatty liver disease. Lab. Invest. 91(2), 283-293 (2011).
    • (2011) Lab. Invest. , vol.91 , Issue.2 , pp. 283-293
    • Alisi, A.1    Da Sacco, L.2    Bruscalupi, G.3
  • 84
    • 77954758898 scopus 로고    scopus 로고
    • MicroRNAs in cardiac development and remodeling
    • Wang DZ. MicroRNAs in cardiac development and remodeling. Pediatr. Cardiol. 31(3), 357-362 (2010).
    • (2010) Pediatr. Cardiol. , vol.31 , Issue.3 , pp. 357-362
    • Wang, D.Z.1
  • 85
    • 69449105488 scopus 로고    scopus 로고
    • Role of microRNAs in cardiac hypertrophy and heart failure
    • Wang N, Zhou Z, Liao X, Zhang T. Role of microRNAs in cardiac hypertrophy and heart failure. IUBMB Life 61(6), 566-571 (2009).
    • (2009) IUBMB Life , vol.61 , Issue.6 , pp. 566-571
    • Wang, N.1    Zhou, Z.2    Liao, X.3    Zhang, T.4
  • 86
    • 79955605389 scopus 로고    scopus 로고
    • MicroRNAs and cardiovascular diseases
    • Ono K, Kuwabara Y, Han J. MicroRNAs and cardiovascular diseases. FEBS J. 278(10), 1619-1633 (2011).
    • (2011) FEBS J. , vol.278 , Issue.10 , pp. 1619-1633
    • Ono, K.1    Kuwabara, Y.2    Han, J.3
  • 88
    • 80053085299 scopus 로고    scopus 로고
    • From the bench to bedside: Biological and methodology considerations for the future of companion diagnostics in nonsmall cell lung cancer
    • Dimou A, Harrington K, Syrigos KN. From the bench to bedside: Biological and methodology considerations for the future of companion diagnostics in nonsmall cell lung cancer. Pathol. Res. Int. 2011, 312346 (2011).
    • (2011) Pathol. Res. Int. , vol.2011 , pp. 312346
    • Dimou, A.1    Harrington, K.2    Syrigos, K.N.3
  • 89
    • 84860390334 scopus 로고    scopus 로고
    • Predictive biomarkers: A paradigm shift towards personalized cancer medicine
    • La Thangue NB, Kerr DJ. Predictive biomarkers: A paradigm shift towards personalized cancer medicine. Nat. Rev. 8(10), 587-596 (2011).
    • (2011) Nat. Rev. , vol.8 , Issue.10 , pp. 587-596
    • La Thangue, N.B.1    Kerr, D.J.2
  • 90
    • 79958815219 scopus 로고    scopus 로고
    • Cancer biomarkers, companion diagnostics and personalized oncology
    • Ross JS. Cancer biomarkers, companion diagnostics and personalized oncology. Biomark. Med. 5(3), 277-279 (2011).
    • (2011) Biomark. Med. , vol.5 , Issue.3 , pp. 277-279
    • Ross, J.S.1
  • 91
    • 77954827460 scopus 로고    scopus 로고
    • The path to personalized medicine
    • Discusses the emergence of personalized medicine and related issues
    • Hamburg MA, Collins FS. The path to personalized medicine. N. Engl. J. Med. 363(4), 301-304 (2010). Discusses the emergence of personalized medicine and related issues.
    • (2010) N. Engl. J. Med. , vol.363 , Issue.4 , pp. 301-304
    • Hamburg, M.A.1    Collins, F.S.2
  • 92
    • 80052279733 scopus 로고    scopus 로고
    • Medication adherence: A call for action
    • Bosworth HB, Granger BB, Mendys P et al. Medication adherence: A call for action. Am. Heart J. 162(3), 412-424 (2011).
    • (2011) Am. Heart J. , vol.162 , Issue.3 , pp. 412-424
    • Bosworth, H.B.1    Granger, B.B.2    Mendys, P.3
  • 93
    • 3042728674 scopus 로고    scopus 로고
    • Pharmacogenetics-expectations and reality
    • Tucker G. Pharmacogenetics-expectations and reality. BMJ 329(7456), 4-6 (2004).
    • (2004) BMJ , vol.329 , Issue.7456 , pp. 4-6
    • Tucker, G.1
  • 95
    • 26844464326 scopus 로고    scopus 로고
    • Intellectual property landscape of the human genome
    • DOI 10.1126/science.1120014
    • Jensen K, Murray F. Intellectual property. Enhanced: Intellectual property landscape of the human genome. Science 310(5746), 239-240 (2005). (Pubitemid 41457177)
    • (2005) Science , vol.310 , Issue.5746 , pp. 239-240
    • Jensen, K.1    Murray, F.2
  • 96
    • 78650968364 scopus 로고    scopus 로고
    • Determining the optimal approach for government-regulated genetic testing
    • Baudhuin LM. Determining the optimal approach for government-regulated genetic testing. Clin. Chem. 57(1), 7-8 (2011).
    • (2011) Clin. Chem. , vol.57 , Issue.1 , pp. 7-8
    • Baudhuin, L.M.1
  • 97
    • 79955748002 scopus 로고    scopus 로고
    • Regulating molecular diagnostic assays: Developing a new regulatory structure for a new technology
    • Details the current regulatory system and how it relates to government regulation of molecular diagnostics
    • Gibbs JN. Regulating molecular diagnostic assays: Developing a new regulatory structure for a new technology. Expert Rev. Mol. Diagn. 11(4), 367-381 (2011). Details the current regulatory system and how it relates to government regulation of molecular diagnostics.
    • (2011) Expert Rev. Mol. Diagn. , vol.11 , Issue.4 , pp. 367-381
    • Gibbs, J.N.1
  • 98
    • 77955619710 scopus 로고    scopus 로고
    • Which way for genetic-test regulation? Leave test interpretation to specialists
    • Beaudet AL. Which way for genetic-test regulation? Leave test interpretation to specialists. Nature 466(7308), 816-817 (2010).
    • (2010) Nature , vol.466 , Issue.7308 , pp. 816-817
    • Beaudet, A.L.1
  • 99
    • 77955626179 scopus 로고    scopus 로고
    • Which way for genetic-test regulation? Assign regulation appropriate to the level of risk
    • Javitt G. Which way for genetic-test regulation? Assign regulation appropriate to the level of risk. Nature 466(7308), 817-818 (2010).
    • (2010) Nature , vol.466 , Issue.7308 , pp. 817-818
    • Javitt, G.1
  • 100
    • 58149218240 scopus 로고    scopus 로고
    • High-resolution mapping of copy-number alterations with massively parallel sequencing
    • Chiang DY, Getz G, Jaffe DB et al. High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat. Method. 6(1), 99-103 (2009).
    • (2009) Nat. Method. , vol.6 , Issue.1 , pp. 99-103
    • Chiang, D.Y.1    Getz, G.2    Jaffe, D.B.3
  • 101
    • 77956838065 scopus 로고    scopus 로고
    • Advances in understanding cancer genomes through second-generation sequencing
    • Provides a comprehensive review of novel applications in the field of next-generation sequencing, especially as it relates to cancer diagnostics
    • Meyerson M, Gabriel S, Getz G. Advances in understanding cancer genomes through second-generation sequencing. Nat. Rev. Genet. 11(10), 685-696 (2011). Provides a comprehensive review of novel applications in the field of next-generation sequencing, especially as it relates to cancer diagnostics.
    • (2011) Nat. Rev. Genet. , vol.11 , Issue.10 , pp. 685-696
    • Meyerson, M.1    Gabriel, S.2    Getz, G.3
  • 102
    • 81055157018 scopus 로고    scopus 로고
    • Studying the epigenome using next generation sequencing
    • Ku CS, Naidoo N, Wu M, Soong R. Studying the epigenome using next generation sequencing. J. Med. Gen. 48(11), 721-730 (2011).
    • (2011) J. Med. Gen. , vol.48 , Issue.11 , pp. 721-730
    • Ku, C.S.1    Naidoo, N.2    Wu, M.3    Soong, R.4
  • 104
    • 79953784627 scopus 로고    scopus 로고
    • Personalized medicine-trends in molecular diagnostics: Exponential growth expected in the next ten years
    • Hoggatt J. Personalized medicine-trends in molecular diagnostics: Exponential growth expected in the next ten years. Mol. Diagn. Ther. 15(1), 53-55 (2011).
    • (2011) Mol. Diagn. Ther. , vol.15 , Issue.1 , pp. 53-55
    • Hoggatt, J.1
  • 105
    • 79953746638 scopus 로고    scopus 로고
    • Personalized medicine-The promised land: Are we there yet?
    • Li C. Personalized medicine-the promised land: Are we there yet? Clin. Genet. 79(5), 403-412 (2011).
    • (2011) Clin. Genet. , vol.79 , Issue.5 , pp. 403-412
    • Li, C.1


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