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Volumn 10, Issue 5, 2014, Pages

Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; RNA; TRANSCRIPTOME; PROTEIN;

EID: 84901624486     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1004304     Document Type: Article
Times cited : (47)

References (32)
  • 1
    • 84863116742 scopus 로고    scopus 로고
    • A systematic survey of loss-of-function variants in human protein-coding genes
    • MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, et al. (2012) A systematic survey of loss-of-function variants in human protein-coding genes. Science 335: 823-828.
    • (2012) Science , vol.335 , pp. 823-828
    • MacArthur, D.G.1    Balasubramanian, S.2    Frankish, A.3    Huang, N.4    Morris, J.5
  • 2
    • 84860817223 scopus 로고    scopus 로고
    • Recent explosive human population growth has resulted in an excess of rare genetic variants
    • Keinan A, Clark AG, (2012) Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 336: 740-743.
    • (2012) Science , vol.336 , pp. 740-743
    • Keinan, A.1    Clark, A.G.2
  • 3
    • 78650895972 scopus 로고    scopus 로고
    • Loss-of-function variants in the genomes of healthy humans
    • MacArthur DG, Tyler-Smith C, (2010) Loss-of-function variants in the genomes of healthy humans. Human Molecular Genetics 19: R125-130.
    • (2010) Human Molecular Genetics , vol.19
    • MacArthur, D.G.1    Tyler-Smith, C.2
  • 4
    • 70350651269 scopus 로고    scopus 로고
    • Global patterns of cis variation in human cells revealed by high-density allelic expression analysis
    • Ge B, Pokholok DK, Kwan T, Grundberg E, Morcos L, et al. (2009) Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nature Genetics 41: 1216-1222.
    • (2009) Nature Genetics , vol.41 , pp. 1216-1222
    • Ge, B.1    Pokholok, D.K.2    Kwan, T.3    Grundberg, E.4    Morcos, L.5
  • 6
    • 84862751980 scopus 로고    scopus 로고
    • Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines
    • Berlivet S, Moussette S, Ouimet M, Verlaan DJ, Koka V, et al. (2012) Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines. Human Genetics 131: 1161-1171.
    • (2012) Human Genetics , vol.131 , pp. 1161-1171
    • Berlivet, S.1    Moussette, S.2    Ouimet, M.3    Verlaan, D.J.4    Koka, V.5
  • 7
    • 84861311934 scopus 로고    scopus 로고
    • Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1
    • Jentarra GM, Rice SG, Olfers S, Rajan C, Saffen DM, et al. (2012) Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1. Journal of Child Neurology 27: 695-702.
    • (2012) Journal of Child Neurology , vol.27 , pp. 695-702
    • Jentarra, G.M.1    Rice, S.G.2    Olfers, S.3    Rajan, C.4    Saffen, D.M.5
  • 8
    • 79951494607 scopus 로고    scopus 로고
    • TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
    • Finch N, Carrasquillo MM, Baker M, Rutherford NJ, Coppola G, et al. (2011) TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology 76: 467-474.
    • (2011) Neurology , vol.76 , pp. 467-474
    • Finch, N.1    Carrasquillo, M.M.2    Baker, M.3    Rutherford, N.J.4    Coppola, G.5
  • 9
    • 77955081986 scopus 로고    scopus 로고
    • Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability
    • Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, et al. (2010) Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. American Journal of Human Genetics 87: 60-74.
    • (2010) American Journal of Human Genetics , vol.87 , pp. 60-74
    • Emison, E.S.1    Garcia-Barcelo, M.2    Grice, E.A.3    Lantieri, F.4    Amiel, J.5
  • 10
    • 84859786757 scopus 로고    scopus 로고
    • Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
    • Maia A-T, Antoniou AC, O'Reilly M, Samarajiwa S, Dunning M, et al. (2012) Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers. Breast Cancer Research 14: R63-R63.
    • (2012) Breast Cancer Research , vol.14
    • Maia, A.-T.1    Antoniou, A.C.2    O'Reilly, M.3    Samarajiwa, S.4    Dunning, M.5
  • 11
    • 84901611255 scopus 로고    scopus 로고
    • Quantifying RNA allelic ratios by microfluidic multiplex PCR and sequencing
    • Zhang R, Ramawami G, Smith K, Gustavo T, Montgomery SB, et al. (2013) Quantifying RNA allelic ratios by microfluidic multiplex PCR and sequencing. Nature Methods [Available online 24 November 2013].
    • (2013) Nature Methods
    • Zhang, R.1    Ramawami, G.2    Smith, K.3    Gustavo, T.4    Montgomery, S.B.5
  • 13
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, et al. (2010) A map of human genome variation from population-scale sequencing. Nature 467: 1061-1073.
    • (2010) Nature , vol.467 , pp. 1061-1073
    • Abecasis, G.R.1    Altshuler, D.2    Auton, A.3    Brooks, L.D.4    Durbin, R.M.5
  • 14
    • 84901629857 scopus 로고    scopus 로고
    • NHLBI GO Exome Sequencing Project (ESP). Available:. Accessed 8 April 2014
    • NHLBI GO Exome Sequencing Project (ESP). Available: https://esp.gs.washington.edu/drupal/. Accessed 8 April 2014.
  • 15
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng PC, Henikoff S, (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Research 31: 3812-3814.
    • (2003) Nucleic Acids Research , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 17
    • 70349910898 scopus 로고    scopus 로고
    • Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data
    • Degner JF, Marioni JC, Pai AA, Pickrell JK, Nkadori E, et al. (2009) Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data. Bioinformatics 25: 3207-3212.
    • (2009) Bioinformatics , vol.25 , pp. 3207-3212
    • Degner, J.F.1    Marioni, J.C.2    Pai, A.A.3    Pickrell, J.K.4    Nkadori, E.5
  • 18
    • 16944363776 scopus 로고    scopus 로고
    • The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region
    • Jay P, Rougeulle C, Massacrier A, Moncla A, Mattei MG, et al. (1997) The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nat Genet 17: 357-361.
    • (1997) Nat Genet , vol.17 , pp. 357-361
    • Jay, P.1    Rougeulle, C.2    Massacrier, A.3    Moncla, A.4    Mattei, M.G.5
  • 19
    • 42149091597 scopus 로고    scopus 로고
    • Real-time PCR analysis of candidate imprinted genes on mouse chromosome 11 shows balanced expression from the maternal and paternal chromosomes and strain-specific variation in expression levels
    • Tuskan RG, Tsang S, Sun Z, Baer J, Rozenblum E, et al. (2008) Real-time PCR analysis of candidate imprinted genes on mouse chromosome 11 shows balanced expression from the maternal and paternal chromosomes and strain-specific variation in expression levels. Epigenetics 3: 43-50.
    • (2008) Epigenetics , vol.3 , pp. 43-50
    • Tuskan, R.G.1    Tsang, S.2    Sun, Z.3    Baer, J.4    Rozenblum, E.5
  • 20
    • 33644662511 scopus 로고    scopus 로고
    • Analysis of allelic differential expression in human white blood cells
    • Pant PV, Tao H, Beilharz EJ, Ballinger DG, Cox DR, et al. (2006) Analysis of allelic differential expression in human white blood cells. Genome Res 16: 331-339.
    • (2006) Genome Res , vol.16 , pp. 331-339
    • Pant, P.V.1    Tao, H.2    Beilharz, E.J.3    Ballinger, D.G.4    Cox, D.R.5
  • 21
    • 68349089152 scopus 로고    scopus 로고
    • Digital RNA allelotyping reveals tissue-specific and allele-specific gene expression in human
    • Zhang K, Li JB, Gao Y, Egli D, Xie B, et al. (2009) Digital RNA allelotyping reveals tissue-specific and allele-specific gene expression in human. Nature Methods 6: 613-618.
    • (2009) Nature Methods , vol.6 , pp. 613-618
    • Zhang, K.1    Li, J.B.2    Gao, Y.3    Egli, D.4    Xie, B.5
  • 22
    • 0034056133 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders
    • Boyadjiev SA, Jabs EW, (2000) Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders. Clin Genet 57: 253-266.
    • (2000) Clin Genet , vol.57 , pp. 253-266
    • Boyadjiev, S.A.1    Jabs, E.W.2
  • 23
    • 0031734161 scopus 로고    scopus 로고
    • Transient trimethylaminuria in childhood
    • Mayatepek E, Kohlmüller D, (1998) Transient trimethylaminuria in childhood. Acta Paediatrica 87: 1205-1207.
    • (1998) Acta Paediatrica , vol.87 , pp. 1205-1207
    • Mayatepek, E.1    Kohlmüller, D.2
  • 24
    • 0030667523 scopus 로고    scopus 로고
    • Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome
    • Dolphin CT, Janmohamed A, Smith RL, Shephard EA, Phillips IR, (1997) Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome. Nature Genetics 17: 491-494.
    • (1997) Nature Genetics , vol.17 , pp. 491-494
    • Dolphin, C.T.1    Janmohamed, A.2    Smith, R.L.3    Shephard, E.A.4    Phillips, I.R.5
  • 26
    • 84855925920 scopus 로고    scopus 로고
    • Rare and common variants: twenty arguments
    • Gibson G, (2011) Rare and common variants: twenty arguments. Nature Reviews Genetics 13: 135-145.
    • (2011) Nature Reviews Genetics , vol.13 , pp. 135-145
    • Gibson, G.1
  • 27
    • 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
  • 28
    • 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 Research 20: 1297-1303.
    • (2010) Genome Research , vol.20 , pp. 1297-1303
    • McKenna, A.1    Hanna, M.2    Banks, E.3    Sivachenko, A.4    Cibulskis, K.5
  • 30
    • 77952123055 scopus 로고    scopus 로고
    • Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation
    • Trapnell C, Williams Ba, Pertea G, Mortazavi A, Kwan G, et al. (2010) Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation. Nature biotechnology 28: 511-515.
    • (2010) Nature Biotechnology , vol.28 , pp. 511-515
    • Trapnell, C.1    Williams, B.2    Pertea, G.3    Mortazavi, A.4    Kwan, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.