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Volumn 16, Issue 8, 2015, Pages

Insights from GWAS: Emerging landscape of mechanisms underlying complex trait disease

Author keywords

Complex trait disease; Expression; Functional annotation; GWAS; Missense; SNPs; Splicing

Indexed keywords

PROTEIN DERIVATIVE; ISOPROTEIN;

EID: 84969506262     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-16-S8-S4     Document Type: Article
Times cited : (15)

References (57)
  • 2
    • 49549111404 scopus 로고    scopus 로고
    • Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence
    • Saccone SF, Saccone NL, Swan GE, Madden PA, Goate AM, Rice JP, Bierut LJ: Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence. Bioinformatics. 2008, 24 (16): 1805-1811. 10.1093/bioinformatics/btn315.
    • (2008) Bioinformatics , vol.24 , Issue.16 , pp. 1805-1811
    • Saccone, S.F.1    Saccone, N.L.2    Swan, G.E.3    Madden, P.A.4    Goate, A.M.5    Rice, J.P.6    Bierut, L.J.7
  • 3
    • 33747832183 scopus 로고    scopus 로고
    • FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization
    • Yuan HY, Chiou JJ, Tseng WH, Liu CH, Liu CK, Lin YJ, et al: FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. Nucleic Acids Res. 2006, 34 (Web Server issue): W635-W641.
    • (2006) Nucleic Acids Res , vol.34 , Issue.WEB SERVER ISSUE , pp. W635-W641
    • Yuan, H.Y.1    Chiou, J.J.2    Tseng, W.H.3    Liu, C.H.4    Liu, C.K.5    Lin, Y.J.6
  • 4
    • 57649201350 scopus 로고    scopus 로고
    • FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease
    • Chen R, Morgan AA, Dudley J, Deshpande T, Li L, Kodama K, et al: FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease. Genome Biol. 2008, 9 (12): R170-10.1186/gb-2008-9-12-r170.
    • (2008) Genome Biol , vol.9 , Issue.12 , pp. R170
    • Chen, R.1    Morgan, A.A.2    Dudley, J.3    Deshpande, T.4    Li, L.5    Kodama, K.6
  • 5
    • 84872419930 scopus 로고    scopus 로고
    • SNPranker 2.0: a gene-centric data mining tool for diseases associated SNP prioritization in GWAS
    • Merelli I, Calabria A, Cozzi P, Viti F, Mosca E, Milanesi L: SNPranker 2.0: a gene-centric data mining tool for diseases associated SNP prioritization in GWAS. BMC Bioinformatics. 2013, 14 (Suppl 1): S9-
    • (2013) BMC Bioinformatics , vol.14 , pp. S9
    • Merelli, I.1    Calabria, A.2    Cozzi, P.3    Viti, F.4    Mosca, E.5    Milanesi, L.6
  • 7
    • 84898773541 scopus 로고    scopus 로고
    • Guilt by rewiring: gene prioritization through network rewiring in genome wide association studies
    • Hou L, Chen M, Zhang CK, Cho J, Zhao H: Guilt by rewiring: gene prioritization through network rewiring in genome wide association studies. Hum Mol Genet. 2014, 23 (10): 2780-2790. 10.1093/hmg/ddt668.
    • (2014) Hum Mol Genet , vol.23 , Issue.10 , pp. 2780-2790
    • Hou, L.1    Chen, M.2    Zhang, C.K.3    Cho, J.4    Zhao, H.5
  • 8
    • 48749084893 scopus 로고    scopus 로고
    • Genome-wide association studies: a new window into immune-mediated diseases
    • Xavier RJ, Rioux JD: Genome-wide association studies: a new window into immune-mediated diseases. Nature Reviews Immunology. 2008, 8 (8): 631-643. 10.1038/nri2361.
    • (2008) Nature Reviews Immunology , vol.8 , Issue.8 , pp. 631-643
    • Xavier, R.J.1    Rioux, J.D.2
  • 9
    • 84876838711 scopus 로고    scopus 로고
    • The hierarchy of the 3D genome
    • Gibcus JH, Dekker J: The hierarchy of the 3D genome. Mol Cell. 2013, 49 (5): 773-782. 10.1016/j.molcel.2013.02.011.
    • (2013) Mol Cell , vol.49 , Issue.5 , pp. 773-782
    • Gibcus, J.H.1    Dekker, J.2
  • 10
    • 84897855294 scopus 로고    scopus 로고
    • Obesity-associated variants within FTO form long-range functional connections with IRX3
    • Smemo S, Tena JJ, Kim KH, Gamazon ER, Sakabe NJ, Gomez-Marin C, et al: Obesity-associated variants within FTO form long-range functional connections with IRX3. Nature. 2014, 507 (7492): 371-375. 10.1038/nature13138.
    • (2014) Nature , vol.507 , Issue.7492 , pp. 371-375
    • Smemo, S.1    Tena, J.J.2    Kim, K.H.3    Gamazon, E.R.4    Sakabe, N.J.5    Gomez-Marin, C.6
  • 11
    • 84897452599 scopus 로고    scopus 로고
    • Genome-wide DNA methylation analysis of human pancreatic islets from type 2 diabetic and non-diabetic donors identifies candidate genes that influence insulin secretion
    • Dayeh T, Volkov P, Salo S, Hall E, Nilsson E, Olsson AH, et al: Genome-wide DNA methylation analysis of human pancreatic islets from type 2 diabetic and non-diabetic donors identifies candidate genes that influence insulin secretion. PLoS Genetics. 2014, 10 (3): e1004160-10.1371/journal.pgen.1004160.
    • (2014) PLoS Genetics , vol.10 , Issue.3
    • Dayeh, T.1    Volkov, P.2    Salo, S.3    Hall, E.4    Nilsson, E.5    Olsson, A.H.6
  • 13
    • 77950405093 scopus 로고    scopus 로고
    • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
    • Wellcome Trust Case Control Consortium, Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, et al: Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature. 2010, 464 (7289): 713-720. 10.1038/nature08979.
    • (2010) Nature , vol.464 , Issue.7289 , pp. 713-720
    • Craddock, N.1    Hurles, M.E.2    Cardin, N.3    Pearson, R.D.4    Plagnol, V.5
  • 14
    • 32044453591 scopus 로고    scopus 로고
    • Identification and analysis of deleterious human SNPs
    • Yue P, Moult J: Identification and analysis of deleterious human SNPs. J Mol Biol. 2006, 356 (5): 1263-1274. 10.1016/j.jmb.2005.12.025.
    • (2006) J Mol Biol , vol.356 , Issue.5 , pp. 1263-1274
    • Yue, P.1    Moult, J.2
  • 15
    • 80054757853 scopus 로고    scopus 로고
    • Structural and functional impact of cancer-related missense somatic mutations
    • Shi Z, Moult J: Structural and functional impact of cancer-related missense somatic mutations. J Mol Biol. 2011, 413 (2): 495-512. 10.1016/j.jmb.2011.06.046.
    • (2011) J Mol Biol , vol.413 , Issue.2 , pp. 495-512
    • Shi, Z.1    Moult, J.2
  • 16
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC: Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature protocols. 2009, 4 (7): 1073-1081.
    • (2009) Nature protocols , vol.4 , Issue.7 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 19
    • 68249121529 scopus 로고    scopus 로고
    • Missed threads. The impact of pre-mRNA splicing defects on clinical practice
    • Baralle D, Lucassen A, Buratti E: Missed threads. The impact of pre-mRNA splicing defects on clinical practice. EMBO Rep. 2009, 10 (8): 810-816. 10.1038/embor.2009.170.
    • (2009) EMBO Rep , vol.10 , Issue.8 , pp. 810-816
    • Baralle, D.1    Lucassen, A.2    Buratti, E.3
  • 20
    • 34547559084 scopus 로고    scopus 로고
    • SplicePort--an interactive splice-site analysis tool
    • Dogan RI, Getoor L, Wilbur WJ, Mount SM: SplicePort--an interactive splice-site analysis tool. Nucleic Acids Res. 2007, 35 (Web Server issue): W285-W291.
    • (2007) Nucleic Acids Res , vol.35 , Issue.WEB SERVER ISSUE , pp. W285-W291
    • Dogan, R.I.1    Getoor, L.2    Wilbur, W.J.3    Mount, S.M.4
  • 21
    • 25144523127 scopus 로고    scopus 로고
    • Loss of protein structure stability as a major causative factor in monogenic disease
    • Yue P, Li Z, Moult J: Loss of protein structure stability as a major causative factor in monogenic disease. J Mol Biol. 2005, 353 (2): 459-473. 10.1016/j.jmb.2005.08.020.
    • (2005) J Mol Biol , vol.353 , Issue.2 , pp. 459-473
    • Yue, P.1    Li, Z.2    Moult, J.3
  • 23
    • 84869056823 scopus 로고    scopus 로고
    • Why transcription factor binding sites are ten nucleotides long
    • Stewart AJ, Hannenhalli S, Plotkin JB: Why transcription factor binding sites are ten nucleotides long. Genetics. 2012, 192 (3): 973-985. 10.1534/genetics.112.143370.
    • (2012) Genetics , vol.192 , Issue.3 , pp. 973-985
    • Stewart, A.J.1    Hannenhalli, S.2    Plotkin, J.B.3
  • 24
    • 84875847924 scopus 로고    scopus 로고
    • Is junk DNA bunk? A critique of ENCODE
    • Doolittle WF: Is junk DNA bunk? A critique of ENCODE. Proc Natl Acad Sci USA. 2013, 110 (14): 5294-5300. 10.1073/pnas.1221376110.
    • (2013) Proc Natl Acad Sci USA , vol.110 , Issue.14 , pp. 5294-5300
    • Doolittle, W.F.1
  • 25
    • 84875275808 scopus 로고    scopus 로고
    • On the immortality of television sets: "function" in the human genome according to the evolution-free gospel of ENCODE
    • Graur D, Zheng Y, Price N, Azevedo RB, Zufall RA, Elhaik E: On the immortality of television sets: "function" in the human genome according to the evolution-free gospel of ENCODE. Genome Biol Evol. 2013, 5 (3): 578-590. 10.1093/gbe/evt028.
    • (2013) Genome Biol Evol , vol.5 , Issue.3 , pp. 578-590
    • Graur, D.1    Zheng, Y.2    Price, N.3    Azevedo, R.B.4    Zufall, R.A.5    Elhaik, E.6
  • 26
    • 84969549088 scopus 로고    scopus 로고
    • Analysis of consensus geneome-wide expression-QTLs and their relationship to Human complex trait disease
    • Yu C-H, Pal LR, Moult J: Analysis of consensus geneome-wide expression-QTLs and their relationship to Human complex trait disease. Submitted. 2015
    • (2015) Submitted.
    • Yu, C.-H.1    Pal, L.R.2    Moult, J.3
  • 27
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
    • Wellcome Trust Case Control Consortium: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007, 447 (7145): 661-678. 10.1038/nature05911.
    • (2007) Nature , vol.447 , Issue.7145 , pp. 661-678
  • 28
    • 84930086838 scopus 로고    scopus 로고
    • Genetic basis of common human disease: Insight into the role of Missense SNPs from Genome Wide Association Studies.
    • Pal LR, Moult J: Genetic basis of common human disease: Insight into the role of Missense SNPs from Genome Wide Association Studies. J Mol Biol. 2015, http://dx.doi.org/10.1016/j.jmb.2015.04.014
    • (2015) J Mol Biol.
    • Pal, L.R.1    Moult, J.2
  • 29
    • 4944223388 scopus 로고    scopus 로고
    • Widespread predicted nonsense-mediated mRNA decay of alternatively-spliced transcripts of human normal and disease genes
    • Green RE, Lewis BP, Hillman RT, Blanchette M, Lareau LF, Garnett AT, et al: Widespread predicted nonsense-mediated mRNA decay of alternatively-spliced transcripts of human normal and disease genes. Bioinformatics. 2003, i118-i121. 19 Suppl 1
    • (2003) Bioinformatics , vol.19 , pp. i118-i121
    • Green, R.E.1    Lewis, B.P.2    Hillman, R.T.3    Blanchette, M.4    Lareau, L.F.5    Garnett, A.T.6
  • 32
    • 25444482352 scopus 로고    scopus 로고
    • The exchangeability of amino acids in proteins
    • Yampolsky LY, Stoltzfus A: The exchangeability of amino acids in proteins. Genetics. 2005, 170 (4): 1459-1472. 10.1534/genetics.104.039107.
    • (2005) Genetics , vol.170 , Issue.4 , pp. 1459-1472
    • Yampolsky, L.Y.1    Stoltzfus, A.2
  • 33
    • 0035065485 scopus 로고    scopus 로고
    • SNPs, protein structure, and disease
    • Wang Z, Moult J: SNPs, protein structure, and disease. Hum Mutat. 2001, 17 (4): 263-270. 10.1002/humu.22.
    • (2001) Hum Mutat , vol.17 , Issue.4 , pp. 263-270
    • Wang, Z.1    Moult, J.2
  • 34
    • 80455174463 scopus 로고    scopus 로고
    • Protein characterization of a candidate mechanism SNP for Crohn's disease: the macrophage stimulating protein R689C substitution
    • Gorlatova N, Chao K, Pal LR, Araj RH, Galkin A, Turko I, et al: Protein characterization of a candidate mechanism SNP for Crohn's disease: the macrophage stimulating protein R689C substitution. PLoS One. 2011, 6 (11): e27269-10.1371/journal.pone.0027269.
    • (2011) PLoS One , vol.6 , Issue.11 , pp. e27269
    • Gorlatova, N.1    Chao, K.2    Pal, L.R.3    Araj, R.H.4    Galkin, A.5    Turko, I.6
  • 35
    • 84860333083 scopus 로고    scopus 로고
    • Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
    • Stahl EA, Wegmann D, Trynka G, Gutierrez-Achury J, Do R, Voight BF, et al: Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nat Genet. 2012, 44 (5): 483-489. 10.1038/ng.2232.
    • (2012) Nat Genet , vol.44 , Issue.5 , pp. 483-489
    • Stahl, E.A.1    Wegmann, D.2    Trynka, G.3    Gutierrez-Achury, J.4    Do, R.5    Voight, B.F.6
  • 36
    • 84925282741 scopus 로고    scopus 로고
    • GWAS and drug targets
    • Cao C, Moult J: GWAS and drug targets. BMC Genomics. 2014, 15 (Suppl 4): S5-10.1186/1471-2164-15-S4-S5.
    • (2014) BMC Genomics , vol.15 , pp. S5
    • Cao, C.1    Moult, J.2
  • 37
    • 67650665283 scopus 로고    scopus 로고
    • Targeting 160 candidate genes for blood pressure regulation with a genome-wide genotyping array
    • Sober S, Org E, Kepp K, Juhanson P, Eyheramendy S, Gieger C, et al: Targeting 160 candidate genes for blood pressure regulation with a genome-wide genotyping array. PLoS One. 2009, 4 (6): e6034-10.1371/journal.pone.0006034.
    • (2009) PLoS One , vol.4 , Issue.6 , pp. e6034
    • Sober, S.1    Org, E.2    Kepp, K.3    Juhanson, P.4    Eyheramendy, S.5    Gieger, C.6
  • 38
    • 0033755028 scopus 로고    scopus 로고
    • Genetics of hypertension: from experimental models to clinical applications
    • Lee WK, Padmanabhan S, Dominiczak AF: Genetics of hypertension: from experimental models to clinical applications. J Hum Hypertens. 2000, 14 (10-11): 631-647.
    • (2000) J Hum Hypertens , vol.14 , Issue.10-11 , pp. 631-647
    • Lee, W.K.1    Padmanabhan, S.2    Dominiczak, A.F.3
  • 39
    • 84912011949 scopus 로고    scopus 로고
    • CELSR2-PSRC1-SORT1 gene expression and association with coronary artery disease and plasma lipid levels in an Asian Indian cohort
    • Arvind P, Nair J, Jambunathan S, Kakkar VV, Shanker J: CELSR2-PSRC1-SORT1 gene expression and association with coronary artery disease and plasma lipid levels in an Asian Indian cohort. Journal of Cardiology. 2014, 64 (5): 339-346. 10.1016/j.jjcc.2014.02.012.
    • (2014) Journal of Cardiology , vol.64 , Issue.5 , pp. 339-346
    • Arvind, P.1    Nair, J.2    Jambunathan, S.3    Kakkar, V.V.4    Shanker, J.5
  • 41
    • 83555178503 scopus 로고    scopus 로고
    • Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase
    • Shi Z, Sellers J, Moult J: Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase. Proteins. 2012, 80 (1): 61-70. 10.1002/prot.23159.
    • (2012) Proteins , vol.80 , Issue.1 , pp. 61-70
    • Shi, Z.1    Sellers, J.2    Moult, J.3
  • 42
    • 77954140531 scopus 로고    scopus 로고
    • Common SNPs explain a large proportion of the heritability for human height
    • Yang J, Benyamin B, McEvoy BP, Gordon S, Henders AK, Nyholt DR, et al: Common SNPs explain a large proportion of the heritability for human height. Nat Genet. 2010, 42 (7): 565-569. 10.1038/ng.608.
    • (2010) Nat Genet , vol.42 , Issue.7 , pp. 565-569
    • Yang, J.1    Benyamin, B.2    McEvoy, B.P.3    Gordon, S.4    Henders, A.K.5    Nyholt, D.R.6
  • 45
    • 84876483233 scopus 로고    scopus 로고
    • Population genetics of rare variants and complex diseases
    • Maher MC, Uricchio LH, Torgerson DG, Hernandez RD: Population genetics of rare variants and complex diseases. Human Heredity. 2012, 74 (3-4): 118-128. 10.1159/000346826.
    • (2012) Human Heredity , vol.74 , Issue.3-4 , pp. 118-128
    • Maher, M.C.1    Uricchio, L.H.2    Torgerson, D.G.3    Hernandez, R.D.4
  • 46
    • 84876847154 scopus 로고    scopus 로고
    • All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs
    • Schork AJ, Thompson WK, Pham P, Torkamani A, Roddey JC, Sullivan PF, et al: All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs. PLoS Genetics. 2013, 9 (4): e1003449-10.1371/journal.pgen.1003449.
    • (2013) PLoS Genetics , vol.9 , Issue.4
    • Schork, A.J.1    Thompson, W.K.2    Pham, P.3    Torkamani, A.4    Roddey, J.C.5    Sullivan, P.F.6
  • 47
    • 84898723939 scopus 로고    scopus 로고
    • Joint analysis of functional genomic data and genome-wide association studies of 18 human traits
    • Pickrell JK: Joint analysis of functional genomic data and genome-wide association studies of 18 human traits. Am J Hum Genet. 2014, 94 (4): 559-573. 10.1016/j.ajhg.2014.03.004.
    • (2014) Am J Hum Genet , vol.94 , Issue.4 , pp. 559-573
    • Pickrell, J.K.1
  • 48
    • 84865822182 scopus 로고    scopus 로고
    • Systematic localization of common disease-associated variation in regulatory DNA
    • Maurano MT, Humbert R, Rynes E, Thurman RE, Haugen E, Wang H, et al: Systematic localization of common disease-associated variation in regulatory DNA. Science. 2012, 337 (6099): 1190-1195. 10.1126/science.1222794.
    • (2012) Science , vol.337 , Issue.6099 , pp. 1190-1195
    • Maurano, M.T.1    Humbert, R.2    Rynes, E.3    Thurman, R.E.4    Haugen, E.5    Wang, H.6
  • 49
    • 84922273141 scopus 로고    scopus 로고
    • Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases
    • Gusev A, Lee SH, Trynka G, Finucane H, Vilhjalmsson BJ, Xu H, et al: Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am J Hum Genet. 2014, 95 (5): 535-552. 10.1016/j.ajhg.2014.10.004.
    • (2014) Am J Hum Genet , vol.95 , Issue.5 , pp. 535-552
    • Gusev, A.1    Lee, S.H.2    Trynka, G.3    Finucane, H.4    Vilhjalmsson, B.J.5    Xu, H.6
  • 50
    • 84923326765 scopus 로고    scopus 로고
    • Genetic and epigenetic fine mapping of causal autoimmune disease variants
    • Farh KK, Marson A, Zhu J, Kleinewietfeld M, Housley WJ, Beik S, et al: Genetic and epigenetic fine mapping of causal autoimmune disease variants. Nature. 2014, 518: 337-343. 10.1038/nature13835.
    • (2014) Nature , vol.518 , pp. 337-343
    • Farh, K.K.1    Marson, A.2    Zhu, J.3    Kleinewietfeld, M.4    Housley, W.J.5    Beik, S.6
  • 51
    • 84908324508 scopus 로고    scopus 로고
    • Integrating functional data to prioritize causal variants in statistical fine-mapping studies
    • Kichaev G, Yang WY, Lindstrom S, Hormozdiari F, Eskin E, Price AL, et al: Integrating functional data to prioritize causal variants in statistical fine-mapping studies. PLoS genetics. 2014, 10 (10): e1004722-10.1371/journal.pgen.1004722.
    • (2014) PLoS genetics , vol.10 , Issue.10 , pp. e1004722
    • Kichaev, G.1    Yang, W.Y.2    Lindstrom, S.3    Hormozdiari, F.4    Eskin, E.5    Price, A.L.6
  • 52
    • 77952367694 scopus 로고    scopus 로고
    • Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations
    • Nica AC, Montgomery SB, Dimas AS, Stranger BE, Beazley C, Barroso I, Dermitzakis ET: Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations. PLoS Genetics. 2010, 6 (4): e1000895-10.1371/journal.pgen.1000895.
    • (2010) PLoS Genetics , vol.6 , Issue.4
    • Nica, A.C.1    Montgomery, S.B.2    Dimas, A.S.3    Stranger, B.E.4    Beazley, C.5    Barroso, I.6    Dermitzakis, E.T.7
  • 53
    • 77951439152 scopus 로고    scopus 로고
    • Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS
    • Nicolae DL, Gamazon E, Zhang W, Duan S, Dolan ME, Cox NJ: Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genetics. 2010, 6 (4): e1000888-10.1371/journal.pgen.1000888.
    • (2010) PLoS Genetics , vol.6 , Issue.4
    • Nicolae, D.L.1    Gamazon, E.2    Zhang, W.3    Duan, S.4    Dolan, M.E.5    Cox, N.J.6
  • 54
    • 84866057438 scopus 로고    scopus 로고
    • Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium
    • Zhu Q, Ge D, Heinzen EL, Dickson SP, Urban TJ, Zhu M, et al: Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium. Am J Hum Genet. 2012, 91 (3): 422-434. 10.1016/j.ajhg.2012.07.010.
    • (2012) Am J Hum Genet , vol.91 , Issue.3 , pp. 422-434
    • Zhu, Q.1    Ge, D.2    Heinzen, E.L.3    Dickson, S.P.4    Urban, T.J.5    Zhu, M.6
  • 55
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: exonic mutations that affect splicing
    • Cartegni L, Chew SL, Krainer AR: Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet. 2002, 3 (4): 285-298. 10.1038/nrg775.
    • (2002) Nat Rev Genet , vol.3 , Issue.4 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 56
    • 84923276179 scopus 로고    scopus 로고
    • RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease
    • Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, et al: RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015, 347 (6218): 1254806-10.1126/science.1254806.
    • (2015) Science , vol.347 , Issue.6218
    • Xiong, H.Y.1    Alipanahi, B.2    Lee, L.J.3    Bretschneider, H.4    Merico, D.5    Yuen, R.K.6
  • 57
    • 84907022693 scopus 로고    scopus 로고
    • Measuring the activity of protein variants on a large scale using deep mutational scanning
    • Fowler DM, Stephany JJ, Fields S: Measuring the activity of protein variants on a large scale using deep mutational scanning. Nature Protocols. 2014, 9 (9): 2267-2284. 10.1038/nprot.2014.153.
    • (2014) Nature Protocols , vol.9 , Issue.9 , pp. 2267-2284
    • Fowler, D.M.1    Stephany, J.J.2    Fields, S.3


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