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Volumn 6, Issue 1, 2016, Pages

Bioinformaticsworkflow for clinical whole genome sequencing at partners healthcare personalized medicine

Author keywords

Bioinformatics; Clinical sequencing; Next generation sequencing; NGS; Precision medicine; Validation; WGS

Indexed keywords

ALGORITHM; ARTICLE; BIOINFORMATICS; CONTROLLED STUDY; GENE LOCUS; GENETIC ANALYSIS; GENETIC DATABASE; GENETIC VARIABILITY; HUMAN; PERSONALIZED MEDICINE; SENSITIVITY AND SPECIFICITY; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; VALIDATION PROCESS;

EID: 85009769965     PISSN: None     EISSN: 20754426     Source Type: Journal    
DOI: 10.3390/jpm6010012     Document Type: Article
Times cited : (24)

References (26)
  • 1
    • 84923762812 scopus 로고    scopus 로고
    • New initiative on precision medicine
    • [CrossRef] [PubMed]
    • Collins, F.S, Varmus, H. A new initiative on precision medicine. N. Engl. J. Med. 2015, 372, 793-795. [CrossRef] [PubMed]
    • (2015) N. Engl. J. Med , vol.372 , pp. 793-795
    • Collins, F.S.1    Varmus, H.A.2
  • 6
    • 84881664021 scopus 로고    scopus 로고
    • Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
    • [CrossRef] [PubMed]
    • Jiang, Y.H, Yuen, R.K, Jin, X, Wang, M, Chen, N, Wu, X, Ju, J, Mei, J, Shi, Y, He, M, et al. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am. J. Hum. Genet. 2013, 93, 249-263. [CrossRef] [PubMed]
    • (2013) Am. J. Hum. Genet , vol.93 , pp. 249-263
    • Jiang, Y.H.1    Yuen, R.K.2    Jin, X.3    Wang, M.4    Chen, N.5    Wu, X.6    Ju, J.7    Mei, J.8    Shi, Y.9    He, M.10
  • 9
    • 84897387657 scopus 로고    scopus 로고
    • Salit, M. Integrating human sequence data sets provides a resource of benchmark snp and indel genotype calls
    • [CrossRef] [PubMed]
    • 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. 2014, 32, 246-251. [CrossRef] [PubMed]
    • (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
  • 10
    • 85022198757 scopus 로고    scopus 로고
    • (acessed on 22 October
    • Li, H. Picard. Available online: http://picard.sourceforge.net (acessed on 22 October 2015).
    • (2015) Picard
    • Li, H.1
  • 11
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with burrows-wheeler transform
    • [CrossRef] [PubMed]
    • Li, H, Durbin, R. Fast and accurate short read alignment with burrows-wheeler transform. Bioinformatics 2009, 25, 1754-1760. [CrossRef] [PubMed]
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 15
    • 85011023295 scopus 로고    scopus 로고
    • Inherited chst11/mir3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease
    • [CrossRef] [PubMed]
    • Chopra, S.S, Leshchiner, I, Duzkale, H, McLaughlin, H, Giovanni, M, Zhang, C, Stitziel, N, Fingeroth, J, Joyce, R.M, Lebo, M, et al. Inherited chst11/mir3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. Mol. Genet. Genom. Med. 2015, 3, 413-423. [CrossRef] [PubMed]
    • (2015) Mol. Genet. Genom. Med , vol.3 , pp. 413-423
    • Chopra, S.S.1    Leshchiner, I.2    Duzkale, H.3    McLaughlin, H.4    Giovanni, M.5    Zhang, C.6    Stitziel, N.7    Fingeroth, J.8    Joyce, R.M.9    Lebo, M.10
  • 16
    • 84964315804 scopus 로고    scopus 로고
    • Evaluation of an integrated clinical workflow for targeted next-generation sequencing of low-quality tumor DNA using a 51-gene enrichment panel. BMC Med
    • [CrossRef] [PubMed]
    • Choudhary, A, Mambo, E, Sanford, T, Boedigheimer, M, Twomey, B, Califano, J, Hadd, A, Oliner, K.S, Beaudenon, S, Latham, G.J, et al. Evaluation of an integrated clinical workflow for targeted next-generation sequencing of low-quality tumor DNA using a 51-gene enrichment panel. BMC Med. Genom. 2014, 7, 62. [CrossRef] [PubMed]
    • (2014) Genom , vol.7 , pp. 62
    • Choudhary, A.1    Mambo, E.2    Sanford, T.3    Boedigheimer, M.4    Twomey, B.5    Califano, J.6    Hadd, A.7    Oliner, K.S.8    Beaudenon, S.9    Latham, G.J.10
  • 19
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1092 human genomes
    • 1000 Genomes Project Consortium
    • Genomes Project Consortium. An integrated map of genetic variation from 1092 human genomes. Nature 2012, 491, 56-65.
    • (2012) Nature , vol.491 , pp. 56-65
  • 21
    • 77955405475 scopus 로고    scopus 로고
    • Deriving the consequences of genomic variants with the ensembl api and snp effect predictor
    • [CrossRef] [PubMed]
    • McLaren, W, Pritchard, B, Rios, D, Chen, Y, Flicek, P, Cunningham, F. Deriving the consequences of genomic variants with the ensembl api and snp effect predictor. Bioinformatics 2010, 26, 2069-2070. [CrossRef] [PubMed]
    • (2010) Bioinformatics , vol.26 , pp. 2069-2070
    • McLaren, W.1    Pritchard, B.2    Rios, D.3    Chen, Y.4    Flicek, P.5    Cunningham, F.6
  • 22
    • 84857121123 scopus 로고    scopus 로고
    • NHLBI GO Exome Sequencing Project, (acessed on 22 October
    • NHLBI GO Exome Sequencing Project. Exome Variant Server. Available online: http://evs.gs.washing ton.edu (acessed on 22 October 2015).
    • (2015) Exome Variant Server
  • 26


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.