메뉴 건너뛰기




Volumn 38, Issue 1, 2017, Pages 16-24

ExonImpact: Prioritizing Pathogenic Alternative Splicing Events

Author keywords

alternative splicing; disease; exon impaction; machine learning

Indexed keywords

INTRINSICALLY DISORDERED PROTEIN; RNA; ISOPROTEIN;

EID: 84990200874     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23111     Document Type: Article
Times cited : (10)

References (24)
  • 1
    • 84901431283 scopus 로고    scopus 로고
    • Correcting for differential transcript coverage reveals a strong relationship between alternative splicing and organism complexity
    • Chen L, Bush SJ, Tovar-Corona JM, Castillo-Morales A, Urrutia AO. 2014. Correcting for differential transcript coverage reveals a strong relationship between alternative splicing and organism complexity. Mol Biol Evol 31:1402–1413.
    • (2014) Mol Biol Evol , vol.31 , pp. 1402-1413
    • Chen, L.1    Bush, S.J.2    Tovar-Corona, J.M.3    Castillo-Morales, A.4    Urrutia, A.O.5
  • 2
    • 84943171338 scopus 로고    scopus 로고
    • A global reference for human genetic variation
    • Consortium TGP. 2012. A global reference for human genetic variation. Nature 526:68–74.
    • (2012) Nature , vol.526 , pp. 68-74
    • Consortium, T.G.P.1
  • 4
    • 83855162773 scopus 로고    scopus 로고
    • SPINE X: improving protein secondary structure prediction by multi-step learning coupled with prediction of solvent accessible surface area and backbone torsion angles
    • Faraggi E, Zhang T, Yang Y, Kurgan L, Zhou Y. 2012. SPINE X: improving protein secondary structure prediction by multi-step learning coupled with prediction of solvent accessible surface area and backbone torsion angles. J Comput Chem 33:259–267.
    • (2012) J Comput Chem , vol.33 , pp. 259-267
    • Faraggi, E.1    Zhang, T.2    Yang, Y.3    Kurgan, L.4    Zhou, Y.5
  • 5
    • 0037443035 scopus 로고    scopus 로고
    • Pre-mRNA splicing and human disease
    • Faustino NA, Cooper TA. 2003. Pre-mRNA splicing and human disease. Gene Dev 17:419–437.
    • (2003) Gene Dev , vol.17 , pp. 419-437
    • Faustino, N.A.1    Cooper, T.A.2
  • 7
    • 84901406102 scopus 로고    scopus 로고
    • Thousands of exon skipping events differentiate among splicing patterns in sixteen human tissues
    • Florea L, Song L, Salzberg SL. 2013. Thousands of exon skipping events differentiate among splicing patterns in sixteen human tissues. F1000Research 2:188.
    • (2013) F1000Research , vol.2 , pp. 188
    • Florea, L.1    Song, L.2    Salzberg, S.L.3
  • 8
    • 84929628001 scopus 로고    scopus 로고
    • DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels
    • Folkman L, Yang Y, Li Z, Stantic B, Sattar A, Mort M, Cooper DN, Liu Y, Zhou Y. 2015. DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels. Bioinformatics 31:1599–1606.
    • (2015) Bioinformatics , vol.31 , pp. 1599-1606
    • Folkman, L.1    Yang, Y.2    Li, Z.3    Stantic, B.4    Sattar, A.5    Mort, M.6    Cooper, D.N.7    Liu, Y.8    Zhou, Y.9
  • 9
    • 84930942535 scopus 로고    scopus 로고
    • A structure-based classification and analysis of protein domain family binding sites and their interactions
    • Ghoorah AW, Devignes M-D, Alborzi SZ, Smail-Tabbone M, Ritchie DW. 2015. A structure-based classification and analysis of protein domain family binding sites and their interactions. Biology 4:327–343.
    • (2015) Biology , vol.4 , pp. 327-343
    • Ghoorah, A.W.1    Devignes, M.-D.2    Alborzi, S.Z.3    Smail-Tabbone, M.4    Ritchie, D.W.5
  • 11
    • 84878682420 scopus 로고    scopus 로고
    • The Genotype-Tissue Expression (GTEx) project
    • GTEx Consortium. 2013. The Genotype-Tissue Expression (GTEx) project. Nat Genet 45:580–585.
    • (2013) Nat Genet , vol.45 , pp. 580-585
  • 14
    • 78649714014 scopus 로고    scopus 로고
    • Analysis and design of RNA sequencing experiments for identifying isoform regulation
    • Katz Y, Wang ET, Airoldi EM, Burge CB. 2010. Analysis and design of RNA sequencing experiments for identifying isoform regulation. Nat Methods 7:1009–1115.
    • (2010) Nat Methods , vol.7 , pp. 1009-1115
    • Katz, Y.1    Wang, E.T.2    Airoldi, E.M.3    Burge, C.B.4
  • 16
    • 0345040873 scopus 로고    scopus 로고
    • Classification and regression by randomForest
    • Liaw A, Wiener M. 2002. Classification and regression by randomForest. R News 2/3:18–22.
    • (2002) R News , vol.2-3 , pp. 18-22
    • Liaw, A.1    Wiener, M.2
  • 17
    • 74549226523 scopus 로고    scopus 로고
    • Predicting functional alternative splicing by measuring RNA selection pressure from multigenome alignments
    • Lu H, Lin L, Sato S, Xing Y, Lee CJ. 2009. Predicting functional alternative splicing by measuring RNA selection pressure from multigenome alignments. PLoS Comput Biol 5:e1000608.
    • (2009) PLoS Comput Biol , vol.5
    • Lu, H.1    Lin, L.2    Sato, S.3    Xing, Y.4    Lee, C.J.5
  • 19
    • 84891837451 scopus 로고    scopus 로고
    • The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
    • Stenson P, M M, Ball E, Shaw K, Phillips A, Cooper D. 2014. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133:1–9.
    • (2014) Hum Genet , vol.133 , pp. 1-9
    • Stenson, P.1    Ball, E.2    Shaw, K.3    Phillips, A.4    Cooper, D.5
  • 20
    • 84897742080 scopus 로고    scopus 로고
    • Alternative splicing during Arabidopsis flower development results in constitutive and stage-regulated isoforms
    • Wang H, You C, Chang F, Wang Y, Wang L, Qi J, Ma H. 2014. Alternative splicing during Arabidopsis flower development results in constitutive and stage-regulated isoforms. Front Genet 5:25.
    • (2014) Front Genet , vol.5 , pp. 25
    • Wang, H.1    You, C.2    Chang, F.3    Wang, Y.4    Wang, L.5    Qi, J.6    Ma, H.7
  • 21
    • 80054931745 scopus 로고    scopus 로고
    • SpliceTrap: a method to quantify alternative splicing under single cellular conditions
    • Wu J, Akerman M, Sun S, McCombie WR, Krainer AR, Zhang MQ. 2011. SpliceTrap: a method to quantify alternative splicing under single cellular conditions. Bioinformatics 27:3010–3016.
    • (2011) Bioinformatics , vol.27 , pp. 3010-3016
    • Wu, J.1    Akerman, M.2    Sun, S.3    McCombie, W.R.4    Krainer, A.R.5    Zhang, M.Q.6
  • 23
    • 84855184716 scopus 로고    scopus 로고
    • SPINE-D: accurate prediction of short and long disordered regions by a single neural-network based method
    • Zhang T, Faraggi E, Xue B, Dunker AK, Uversky VN, Zhou Y. 2012. SPINE-D: accurate prediction of short and long disordered regions by a single neural-network based method. J Biomol Struct Dyn 29:799–813.
    • (2012) J Biomol Struct Dyn , vol.29 , pp. 799-813
    • Zhang, T.1    Faraggi, E.2    Xue, B.3    Dunker, A.K.4    Uversky, V.N.5    Zhou, Y.6
  • 24
    • 84874809727 scopus 로고    scopus 로고
    • DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels
    • Zhao H, Yang Y, Zhang X, Mort M, Cooper DN, Liu Y, Zhou Y. 2013. DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels. Genome Biol 14:R23.
    • (2013) Genome Biol , vol.14 , pp. R23
    • Zhao, H.1    Yang, Y.2    Zhang, X.3    Mort, M.4    Cooper, D.N.5    Liu, Y.6    Zhou, Y.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.