메뉴 건너뛰기




Volumn 19, Issue 1, 2017, Pages 35-42

In Silico Proficiency Testing for Clinical Next-Generation Sequencing

Author keywords

[No Author keywords available]

Indexed keywords

BIOINFORMATICS; GENE MUTATION; HUMAN; HUMAN TISSUE; NEXT GENERATION SEQUENCING; ONCOLOGY; BIOLOGY; COMPUTER SIMULATION; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GOOD LABORATORY PRACTICE; HIGH THROUGHPUT SEQUENCING; NUCLEOTIDE SEQUENCE; PROCEDURES; STANDARD; STANDARDS;

EID: 85006482248     PISSN: 15251578     EISSN: 19437811     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2016.09.005     Document Type: Review
Times cited : (27)

References (33)
  • 3
    • 84869429716 scopus 로고    scopus 로고
    • Assuring the quality of next-generation sequencing in clinical laboratory practice
    • 3 Gargis, A.S., Kalman, L., Berry, M.W., Bick, D.P., Dimmock, D.P., Hambuch, T., et al. Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol 30 (2012), 1033–1036.
    • (2012) Nat Biotechnol , vol.30 , pp. 1033-1036
    • Gargis, A.S.1    Kalman, L.2    Berry, M.W.3    Bick, D.P.4    Dimmock, D.P.5    Hambuch, T.6
  • 5
    • 78650775954 scopus 로고    scopus 로고
    • The $1,000 genome, the $100,000 analysis?
    • 5 Mardis, E.R., The $1,000 genome, the $100,000 analysis?. Genome Med, 2, 2010, 84.
    • (2010) Genome Med , vol.2 , pp. 84
    • Mardis, E.R.1
  • 7
    • 84890326219 scopus 로고    scopus 로고
    • Performance of common analysis methods for detecting low-frequency single nucleotide variants in targeted next-generation sequence data
    • 7 Spencer, D.H., Tyagi, M., Vallania, F., Bredemeyer, A.J., Pfeifer, J.D., Mitra, R.D., Duncavage, E.J., Performance of common analysis methods for detecting low-frequency single nucleotide variants in targeted next-generation sequence data. J Mol Diagn 16 (2014), 75–88.
    • (2014) J Mol Diagn , vol.16 , pp. 75-88
    • Spencer, D.H.1    Tyagi, M.2    Vallania, F.3    Bredemeyer, A.J.4    Pfeifer, J.D.5    Mitra, R.D.6    Duncavage, E.J.7
  • 10
    • 0001319267 scopus 로고
    • Clinical Laboratory Improvement Amendments of 1988: final rules and notice: 42 CFR part 493
    • 10 US Department of Health and Human Services, Clinical Laboratory Improvement Amendments of 1988: final rules and notice: 42 CFR part 493. Fed Regist 57 (1992), 7188–7288.
    • (1992) Fed Regist , vol.57 , pp. 7188-7288
    • US Department of Health and Human Services1
  • 13
    • 84893635979 scopus 로고    scopus 로고
    • Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders
    • 13 Richards, C.S., Palomaki, G.E., Lacbawan, F.L., Lyon, E., Feldman, G.L., Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders. Genet Med 16 (2014), 25–32.
    • (2014) Genet Med , vol.16 , pp. 25-32
    • Richards, C.S.1    Palomaki, G.E.2    Lacbawan, F.L.3    Lyon, E.4    Feldman, G.L.5
  • 14
    • 84897387657 scopus 로고    scopus 로고
    • Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
    • 14 Zook, J.M., Chapman, B., Wang, J., Mittelman, D., Hofmann, O., Hide, W., Salit, M., Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls. Nat Biotechnol 32 (2014), 246–251.
    • (2014) Nat Biotechnol , vol.32 , pp. 246-251
    • Zook, J.M.1    Chapman, B.2    Wang, J.3    Mittelman, D.4    Hofmann, O.5    Hide, W.6    Salit, M.7
  • 15
    • 84863320643 scopus 로고    scopus 로고
    • Using the Cre/lox system for targeted integration into the human genome: loxFAS-loxP pairing and delayed introduction of Cre DNA improve gene swapping efficiency
    • 15 Lanza, A.M., Dyess, T.J., Alper, H.S., Using the Cre/lox system for targeted integration into the human genome: loxFAS-loxP pairing and delayed introduction of Cre DNA improve gene swapping efficiency. Biotechnol J 7 (2012), 898–908.
    • (2012) Biotechnol J , vol.7 , pp. 898-908
    • Lanza, A.M.1    Dyess, T.J.2    Alper, H.S.3
  • 16
    • 84871519181 scopus 로고    scopus 로고
    • Innovation: TALENs: a widely applicable technology for targeted genome editing
    • 16 Joung, J.K., Sander, J.D., Innovation: TALENs: a widely applicable technology for targeted genome editing. Nat Rev Mol Cell Biol 14 (2013), 49–55.
    • (2013) Nat Rev Mol Cell Biol , vol.14 , pp. 49-55
    • Joung, J.K.1    Sander, J.D.2
  • 18
    • 84864464507 scopus 로고    scopus 로고
    • Synthetic spike-in standards improve run-specific systematic error analysis for DNA and RNA sequencing
    • 18 Zook, J.M., Samarov, D., McDaniel, J., Sen, S.K., Salit, M., Synthetic spike-in standards improve run-specific systematic error analysis for DNA and RNA sequencing. PLoS One, 7, 2012, e41356.
    • (2012) PLoS One , vol.7 , pp. e41356
    • Zook, J.M.1    Samarov, D.2    McDaniel, J.3    Sen, S.K.4    Salit, M.5
  • 20
    • 79951581008 scopus 로고    scopus 로고
    • Design, construction, and validation of a modular library of sequence diversity standards for polymerase chain reaction
    • 20 Baum, P.D., Young, J.J., Zhang, Q., Kasakow, Z., McCune, J.M., Design, construction, and validation of a modular library of sequence diversity standards for polymerase chain reaction. Anal Biochem 411 (2011), 106–115.
    • (2011) Anal Biochem , vol.411 , pp. 106-115
    • Baum, P.D.1    Young, J.J.2    Zhang, Q.3    Kasakow, Z.4    McCune, J.M.5
  • 22
    • 84857145150 scopus 로고    scopus 로고
    • ART: a next-generation sequencing read simulator
    • 22 Huang, W., Li, L., Myers, J.R., Marth, G.T., ART: a next-generation sequencing read simulator. Bioinformatics 28 (2012), 593–594.
    • (2012) Bioinformatics , vol.28 , pp. 593-594
    • Huang, W.1    Li, L.2    Myers, J.R.3    Marth, G.T.4
  • 24
    • 84856988681 scopus 로고    scopus 로고
    • GemSIM: general, error-model based simularot of next-generation sequencing data
    • 24 McElroy, K., Luciani, F., Thomas, T., GemSIM: general, error-model based simularot of next-generation sequencing data. BMC Genomics, 13, 2012, 74.
    • (2012) BMC Genomics , vol.13 , pp. 74
    • McElroy, K.1    Luciani, F.2    Thomas, T.3
  • 25
    • 54949137701 scopus 로고    scopus 로고
    • MetaSim: a sequencing simulator for genomics and metagenomics
    • 25 Richter, D.C., Ott, F., Auch, A.F., Schmid, R., Huson, D.H., MetaSim: a sequencing simulator for genomics and metagenomics. PLoS One, 3, 2008, e3373.
    • (2008) PLoS One , vol.3 , pp. e3373
    • Richter, D.C.1    Ott, F.2    Auch, A.F.3    Schmid, R.4    Huson, D.H.5
  • 26
    • 84869020066 scopus 로고    scopus 로고
    • Generation of artificial FASTQ files to evaluate the performance of next-generation sequencing pipelines
    • 26 Frampton, M., Houlston, R., Generation of artificial FASTQ files to evaluate the performance of next-generation sequencing pipelines. PLoS One, 7, 2012, e49110.
    • (2012) PLoS One , vol.7 , pp. e49110
    • Frampton, M.1    Houlston, R.2
  • 29
    • 84991829779 scopus 로고    scopus 로고
    • Next-generation proficiency testing
    • 29 Segal, J.P., Next-generation proficiency testing. J Mol Diagn 18 (2016), 469–470.
    • (2016) J Mol Diagn , vol.18 , pp. 469-470
    • Segal, J.P.1
  • 30
    • 84908012204 scopus 로고    scopus 로고
    • Next-generation sequencing of custom amplicons to improve coverage of HaloPlex multigene panels
    • 30 Coonrod, E.M., Durtschi, J.D., Webb, C.V.S., Voelkerding, K.V., Kumanovics, A., Next-generation sequencing of custom amplicons to improve coverage of HaloPlex multigene panels. BioTechniques 57 (2014), 204–207.
    • (2014) BioTechniques , vol.57 , pp. 204-207
    • Coonrod, E.M.1    Durtschi, J.D.2    Webb, C.V.S.3    Voelkerding, K.V.4    Kumanovics, A.5
  • 33
    • 84893723345 scopus 로고    scopus 로고
    • Library preparation methods for next-generation sequencing: tone down the bias
    • 33 van Dijk, E.L., Jaszczyszyn, Y., Thermes, C., Library preparation methods for next-generation sequencing: tone down the bias. Exp Cell Res 322 (2014), 12–20.
    • (2014) Exp Cell Res , vol.322 , pp. 12-20
    • van Dijk, E.L.1    Jaszczyszyn, Y.2    Thermes, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.