-
1
-
-
42449098125
-
Splicing regulation: from a parts list of regulatory elements to an integrated splicing code
-
Wang Z, Burge CB. Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. RNA. 2008;14:802-13.
-
(2008)
RNA
, vol.14
, pp. 802-813
-
-
Wang, Z.1
Burge, C.B.2
-
2
-
-
34548758543
-
Splicing in disease: disruption of the splicing code and the decoding machinery
-
Wang GS, Cooper TA. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet. 2007;8:749-61.
-
(2007)
Nat Rev Genet.
, vol.8
, pp. 749-761
-
-
Wang, G.S.1
Cooper, T.A.2
-
3
-
-
79960607075
-
Loss of exon identity is a common mechanism of human inherited disease
-
Sterne-Weiler T, Howard J, Mort M, Cooper DN, Sanford JR. Loss of exon identity is a common mechanism of human inherited disease. Genome Res. 2011;21:1563-71.
-
(2011)
Genome Res
, vol.21
, pp. 1563-1571
-
-
Sterne-Weiler, T.1
Howard, J.2
Mort, M.3
Cooper, D.N.4
Sanford, J.R.5
-
4
-
-
84892899951
-
Exon identity crisis: disease-causing mutations that disrupt the splicing code
-
Sterne-Weiler T, Sanford JR. Exon identity crisis: disease-causing mutations that disrupt the splicing code. Genome Biol. 2014;15:201.
-
(2014)
Genome Biol
, vol.15
, pp. 201
-
-
Sterne-Weiler, T.1
Sanford, J.R.2
-
5
-
-
7544222317
-
Allele-specific transcript isoforms in human
-
Nembaware V, Wolfe KH, Bettoni F, Kelso J, Seoighe C. Allele-specific transcript isoforms in human. FEBS Lett. 2004;577:233-8.
-
(2004)
FEBS Lett
, vol.577
, pp. 233-238
-
-
Nembaware, V.1
Wolfe, K.H.2
Bettoni, F.3
Kelso, J.4
Seoighe, C.5
-
6
-
-
34347337690
-
Identification of common genetic variation that modulates alternative splicing
-
Hull J, Campino S, Rowlands K, Chan MS, Copley RR, Taylor MS, et al. Identification of common genetic variation that modulates alternative splicing. PLoS Genet. 2007;3:e99.
-
(2007)
PLoS Genet
, vol.3
, pp. e99
-
-
Hull, J.1
Campino, S.2
Rowlands, K.3
Chan, M.S.4
Copley, R.R.5
Taylor, M.S.6
-
7
-
-
38649090044
-
Genome-wide analysis of transcript isoform variation in humans
-
Kwan T, Benovoy D, Dias C, Gurd S, Provencher C, Beaulieu P, et al. Genome-wide analysis of transcript isoform variation in humans. Nat Genet. 2008;40:225-31.
-
(2008)
Nat Genet
, vol.40
, pp. 225-231
-
-
Kwan, T.1
Benovoy, D.2
Dias, C.3
Gurd, S.4
Provencher, C.5
Beaulieu, P.6
-
8
-
-
74249100914
-
Fine-scale variation and genetic determinants of alternative splicing across individuals
-
Coulombe-Huntington J, Lam KC, Dias C, Majewski J. Fine-scale variation and genetic determinants of alternative splicing across individuals. PLoS Genet. 2009;5:e1000766.
-
(2009)
PLoS Genet
, vol.5
, pp. e1000766
-
-
Coulombe-Huntington, J.1
Lam, K.C.2
Dias, C.3
Majewski, J.4
-
9
-
-
79953303842
-
RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression
-
Lalonde E, Ha KC, Wang Z, Bemmo A, Kleinman CL, Kwan T, et al. RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression. Genome Res. 2011;21:545-54.
-
(2011)
Genome Res
, vol.21
, pp. 545-554
-
-
Lalonde, E.1
Ha, K.C.2
Wang, Z.3
Bemmo, A.4
Kleinman, C.L.5
Kwan, T.6
-
10
-
-
84867600931
-
Genetic variation of pre-mRNA alternative splicing in human populations
-
Lu ZX, Jiang P, Xing Y. Genetic variation of pre-mRNA alternative splicing in human populations. Wiley Interdiscip Rev RNA. 2012;3:581-92.
-
(2012)
Wiley Interdiscip Rev RNA
, vol.3
, pp. 581-592
-
-
Lu, Z.X.1
Jiang, P.2
Xing, Y.3
-
11
-
-
77950460661
-
Understanding mechanisms underlying human gene expression variation with RNA sequencing
-
Pickrell JK, Marioni JC, Pai AA, Degner JF, Engelhardt BE, Nkadori E, et al. Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature. 2010;464:768-72.
-
(2010)
Nature
, vol.464
, pp. 768-772
-
-
Pickrell, J.K.1
Marioni, J.C.2
Pai, A.A.3
Degner, J.F.4
Engelhardt, B.E.5
Nkadori, E.6
-
12
-
-
77950458649
-
Transcriptome genetics using second generation sequencing in a Caucasian population
-
Montgomery SB, Sammeth M, Gutierrez-Arcelus M, Lach RP, Ingle C, Nisbett J, et al. Transcriptome genetics using second generation sequencing in a Caucasian population. Nature. 2010;464:773-7.
-
(2010)
Nature
, vol.464
, pp. 773-777
-
-
Montgomery, S.B.1
Sammeth, M.2
Gutierrez-Arcelus, M.3
Lach, R.P.4
Ingle, C.5
Nisbett, J.6
-
13
-
-
84885645853
-
Transcriptome and genome sequencing uncovers functional variation in humans
-
Lappalainen T, Sammeth M, Friedländer MR, 't Hoen PA, Monlong J, Rivas MA, et al. Transcriptome and genome sequencing uncovers functional variation in humans. Nature. 2013;501:506-11.
-
(2013)
Nature
, vol.501
, pp. 506-511
-
-
Lappalainen, T.1
Sammeth, M.2
Friedländer, M.R.3
't Hoen, P.A.4
Monlong, J.5
Rivas, M.A.6
-
14
-
-
84891685308
-
Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals
-
Battle A, Mostafavi S, Zhu X, Potash JB, Weissman MM, McCormick C, et al. Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals. Genome Res. 2014;24:14-24.
-
(2014)
Genome Res
, vol.24
, pp. 14-24
-
-
Battle, A.1
Mostafavi, S.2
Zhu, X.3
Potash, J.B.4
Weissman, M.M.5
McCormick, C.6
-
15
-
-
84881605581
-
Functional implications of splicing polymorphisms in the human genome
-
Kurmangaliyev YZ, Sutormin RA, Naumenko SA, Bazykin GA, Gelfand MS. Functional implications of splicing polymorphisms in the human genome. Hum Mol Genet. 2013;22:3449-59.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 3449-3459
-
-
Kurmangaliyev, Y.Z.1
Sutormin, R.A.2
Naumenko, S.A.3
Bazykin, G.A.4
Gelfand, M.S.5
-
17
-
-
39549117801
-
Computational analysis of splicing errors and mutations in human transcripts
-
Kurmangaliyev YZ, Gelfand MS. Computational analysis of splicing errors and mutations in human transcripts. BMC Genomics. 2008;9:13.
-
(2008)
BMC Genomics
, vol.9
, pp. 13
-
-
Kurmangaliyev, Y.Z.1
Gelfand, M.S.2
-
18
-
-
84871410405
-
The evolutionary landscape of alternative splicing in vertebrate species
-
Barbosa-Morais NL, Irimia M, Pan Q, Xiong HY, Gueroussov S, Lee LJ, et al. The evolutionary landscape of alternative splicing in vertebrate species. Science. 2012;338:1587-93.
-
(2012)
Science
, vol.338
, pp. 1587-1593
-
-
Barbosa-Morais, N.L.1
Irimia, M.2
Pan, Q.3
Xiong, H.Y.4
Gueroussov, S.5
Lee, L.J.6
-
19
-
-
84899829197
-
Evolution of splicing regulatory networks in Drosophila
-
McManus CJ, Coolon JD, Eipper-Mains J, Wittkopp PJ, Graveley BR. Evolution of splicing regulatory networks in Drosophila. Genome Res. 2014;24:786-96.
-
(2014)
Genome Res
, vol.24
, pp. 786-796
-
-
McManus, C.J.1
Coolon, J.D.2
Eipper-Mains, J.3
Wittkopp, P.J.4
Graveley, B.R.5
-
20
-
-
84863012360
-
The Drosophila melanogaster Genetic Reference Panel
-
Mackay TF, Richards S, Stone EA, Barbadilla A, Ayroles JF, Zhu D, et al. The Drosophila melanogaster Genetic Reference Panel. Nature. 2012;482:173-8.
-
(2012)
Nature
, vol.482
, pp. 173-178
-
-
Mackay, T.F.1
Richards, S.2
Stone, E.A.3
Barbadilla, A.4
Ayroles, J.F.5
Zhu, D.6
-
21
-
-
84885600715
-
Whole-genome sequencing of two North American Drosophila melanogaster populations reveals genetic differentiation and positive selection
-
Campo D, Lehmann K, Fjeldsted C, Souaiaia T, Kao J, Nuzhdin SV. Whole-genome sequencing of two North American Drosophila melanogaster populations reveals genetic differentiation and positive selection. Mol Ecol. 2013;22:5084-97.
-
(2013)
Mol Ecol
, vol.22
, pp. 5084-5097
-
-
Campo, D.1
Lehmann, K.2
Fjeldsted, C.3
Souaiaia, T.4
Kao, J.5
Nuzhdin, S.V.6
-
22
-
-
45149105926
-
Efficient control of population structure in model organism association mapping
-
Kang HM, Zaitlen NA, Wade CM, Kirby A, Heckerman D, Daly MJ, et al. Efficient control of population structure in model organism association mapping. Genetics. 2008;178:1709-23.
-
(2008)
Genetics
, vol.178
, pp. 1709-1723
-
-
Kang, H.M.1
Zaitlen, N.A.2
Wade, C.M.3
Kirby, A.4
Heckerman, D.5
Daly, M.J.6
-
23
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
The 1000 Genomes Project Consortium. An integrated map of genetic variation from 1,092 human genomes. Nature. 2010;491:56-65.
-
(2010)
Nature
, vol.491
, pp. 56-65
-
-
-
24
-
-
84863116742
-
A systematic survey of loss-of-function variants in human protein-coding genes
-
MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012;335:823-8.
-
(2012)
Science
, vol.335
, pp. 823-828
-
-
MacArthur, D.G.1
Balasubramanian, S.2
Frankish, A.3
Huang, N.4
Morris, J.5
Walter, K.6
-
25
-
-
84858602406
-
InterPro in 2011: new developments in the family and domain prediction database
-
Hunter S, Jones P, Mitchell A, Apweiler R, Attwood TK, Bateman A, et al. InterPro in 2011: new developments in the family and domain prediction database. Nucleic Acids Res. 2011;401:D306-12.
-
(2011)
Nucleic Acids Res
, vol.401
, pp. D306-D312
-
-
Hunter, S.1
Jones, P.2
Mitchell, A.3
Apweiler, R.4
Attwood, T.K.5
Bateman, A.6
-
26
-
-
34047166332
-
Nimrod, a putative phagocytosis receptor with EGF repeats in Drosophila plasmatocytes
-
Kurucz E, Márkus R, Zsámboki J, Folkl-Medzihradszky K, Darula Z, Vilmos P, et al. Nimrod, a putative phagocytosis receptor with EGF repeats in Drosophila plasmatocytes. Curr Biol. 2007;17:649-54.
-
(2007)
Curr Biol
, vol.17
, pp. 649-654
-
-
Kurucz, E.1
Márkus, R.2
Zsámboki, J.3
Folkl-Medzihradszky, K.4
Darula, Z.5
Vilmos, P.6
-
27
-
-
0036079158
-
The human genome browser at UCSC
-
Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, et al. The human genome browser at UCSC. Genome Res. 2002;12:996-1006.
-
(2002)
Genome Res
, vol.12
, pp. 996-1006
-
-
Kent, W.J.1
Sugnet, C.W.2
Furey, T.S.3
Roskin, K.M.4
Pringle, T.H.5
Zahler, A.M.6
-
28
-
-
1542748076
-
Aligning multiple genomic sequences with the threaded blockset aligner
-
Blanchette M, Kent WJ, Riemer C, Elnitski L, Smit AF, Roskin KM, et al. Aligning multiple genomic sequences with the threaded blockset aligner. Genome Res. 2004;14:708-15.
-
(2004)
Genome Res
, vol.14
, pp. 708-715
-
-
Blanchette, M.1
Kent, W.J.2
Riemer, C.3
Elnitski, L.4
Smit, A.F.5
Roskin, K.M.6
-
29
-
-
59649128891
-
Conditional inhibition of autophagy genes in adult Drosophila impairs immunity without compromising longevity
-
Ren C, Finkel SE, Tower J. Conditional inhibition of autophagy genes in adult Drosophila impairs immunity without compromising longevity. Exp Gerontol. 2009;44:228-35.
-
(2009)
Exp Gerontol
, vol.44
, pp. 228-235
-
-
Ren, C.1
Finkel, S.E.2
Tower, J.3
-
30
-
-
47049101814
-
Dietary composition specifies consumption, obesity, and lifespan in Drosophila melanogaster
-
Skorupa DA, Dervisefendic A, Zwiener J, Pletcher SD. Dietary composition specifies consumption, obesity, and lifespan in Drosophila melanogaster. Aging Cell. 2008;7:478-90.
-
(2008)
Aging Cell
, vol.7
, pp. 478-490
-
-
Skorupa, D.A.1
Dervisefendic, A.2
Zwiener, J.3
Pletcher, S.D.4
-
31
-
-
84883474046
-
A cost-effective method for high-throughput construction of illumina sequencing libraries
-
Dunham JP, Friesen ML. A cost-effective method for high-throughput construction of illumina sequencing libraries. Cold Spring Harb Protoc. 2013;9:820-34.
-
(2013)
Cold Spring Harb Protoc
, vol.9
, pp. 820-834
-
-
Dunham, J.P.1
Friesen, M.L.2
-
32
-
-
84871809302
-
STAR: ultrafast universal RNA-seq aligner
-
Dobin A, Davis CA, Schlesinger F, Drenkow J, Zaleski C, Jha S, et al. STAR: ultrafast universal RNA-seq aligner. Bioinformatics. 2013;29:15-21.
-
(2013)
Bioinformatics
, vol.29
, pp. 15-21
-
-
Dobin, A.1
Davis, C.A.2
Schlesinger, F.3
Drenkow, J.4
Zaleski, C.5
Jha, S.6
-
33
-
-
84861365328
-
Allelic imbalance in Drosophila hybrid heads: exons, isoforms, and evolution
-
Graze RM, Novelo LL, Amin V, Fear JM, Casella G, Nuzhdin SV, et al. Allelic imbalance in Drosophila hybrid heads: exons, isoforms, and evolution. Mol Biol Evol. 2012;29:1521-32.
-
(2012)
Mol Biol Evol
, vol.29
, pp. 1521-1532
-
-
Graze, R.M.1
Novelo, L.L.2
Amin, V.3
Fear, J.M.4
Casella, G.5
Nuzhdin, S.V.6
|