-
1
-
-
78449233933
-
Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation
-
NISC Comparative Sequencing Program, doi: 10.1371/journal.pgen.1001157
-
Andrés AM, Dennis MY, Kretzschmar WW, Cannons JL, Lee-Lin SQ, Hurle B, NISC Comparative Sequencing Program, Schwartzberg PL, Williamson SH, Bustamante CD, et al. 2010. Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation. PLoS Genet 6: e1001157. doi: 10.1371/journal.pgen.1001157.
-
(2010)
PLoS Genet
, vol.6
-
-
Andrés, A.M.1
Dennis, M.Y.2
Kretzschmar, W.W.3
Cannons, J.L.4
Lee-Lin, S.Q.5
Hurle, B.6
Schwartzberg, P.L.7
Williamson, S.H.8
Bustamante, C.D.9
-
2
-
-
56649103899
-
Gene expression and isoform variation analysis using Affymetrix Exon Arrays
-
doi: 10.1186/1471-2164-9-529
-
Bemmo A, Benovoy D, Kwan T, Gaffney DJ, Jensen RV, Majewski J. 2008. Gene expression and isoform variation analysis using Affymetrix Exon Arrays. BMC Genomics 9: 529. doi: 10.1186/1471-2164-9-529.
-
(2008)
BMC Genomics
, vol.9
, pp. 529
-
-
Bemmo, A.1
Benovoy, D.2
Kwan, T.3
Gaffney, D.J.4
Jensen, R.V.5
Majewski, J.6
-
3
-
-
48349090298
-
Effect of polymorphisms within probe-target sequences on olignonucleotide microarray experiments
-
Benovoy D, Kwan T, Majewski J. 2008. Effect of polymorphisms within probe-target sequences on olignonucleotide microarray experiments. Nucleic Acids Res 36: 4417-4423.
-
(2008)
Nucleic Acids Res
, vol.36
, pp. 4417-4423
-
-
Benovoy, D.1
Kwan, T.2
Majewski, J.3
-
4
-
-
20144389631
-
Variation in antiviral 2′,5′-oligoadenylate synthetase (2′5′AS) enzyme activity is controlled by a single-nucleotide polymorphism at a splice-acceptor site in the OAS1 gene
-
DOI 10.1086/429391
-
Bonnevie-Nielsen V, Field LL, Lu S, Zheng DJ, Li M, Martensen PM, Nielsen TB, Beck-Nielsen H, Lau YL, Pociot F. 2005. Variation in antiviral 2′,5′-oligoadenylate synthetase (2′5′AS) enzyme activity is controlled by a single-nucleotide polymorphism at a splice-acceptor site in the OAS1 gene. Am J Hum Genet 76: 623-633. (Pubitemid 40432169)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.4
, pp. 623-633
-
-
Bonnevie-Nielsen, V.1
Field, L.L.2
Lu, S.3
Zheng, D.-J.4
Li, M.5
Martensen, P.M.6
Nielsen, T.B.7
Beck-Nielsen, H.8
Lau, Y.-L.9
Pociot, F.10
-
5
-
-
70350683774
-
Expression quantitative trait loci detected in cell lines are often present in primary tissues
-
Bullaughey K, Chavarria CI, Coop G, Gilad Y. 2009. Expression quantitative trait loci detected in cell lines are often present in primary tissues. Hum Mol Genet 18: 4296-4303.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4296-4303
-
-
Bullaughey, K.1
Chavarria, C.I.2
Coop, G.3
Gilad, Y.4
-
6
-
-
0042242582
-
ESEfinder: A web resource to identify exonic splicing enhancers
-
DOI 10.1093/nar/gkg616
-
Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. 2003. ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res 31: 3568-3571. (Pubitemid 37442199)
-
(2003)
Nucleic Acids Research
, vol.31
, Issue.13
, pp. 3568-3571
-
-
Cartegni, L.1
Wang, J.2
Zhu, Z.3
Zhang, M.Q.4
Krainer, A.R.5
-
7
-
-
27644482314
-
Mapping determinants of human gene expression by regional and genome-wide association
-
DOI 10.1038/nature04244, PII N04244
-
Cheung VG, Spielman RS, Ewens KG, Weber TM, Morley M, Burdick JT. 2005. Mapping determinants of human gene expression by regional and genome-wide association. Nature 437: 1365-1369. (Pubitemid 41568683)
-
(2005)
Nature
, vol.437
, Issue.7063
, pp. 1365-1369
-
-
Cheung, V.G.1
Spielman, R.S.2
Ewens, K.G.3
Weber, T.M.4
Morley, M.5
Burdick, J.T.6
-
8
-
-
79151472509
-
Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes
-
Cooper DN. 2010. Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes. Hum Genomics 4: 284-288.
-
(2010)
Hum Genomics
, vol.4
, pp. 284-288
-
-
Cooper, D.N.1
-
9
-
-
74249100914
-
Fine-scale variation and genetic determinants of alternative splicing across individuals
-
doi: 10.1371/journal.pgen.1000766
-
Coulombe-Huntington J, Lam KC, Dias C, Majewski J. 2009. Fine-scale variation and genetic determinants of alternative splicing across individuals. PLoS Genet 5: e1000766. doi: 10.1371/journal.pgen.1000766.
-
(2009)
PLoS Genet
, vol.5
-
-
Coulombe-Huntington, J.1
Lam, K.C.2
Dias, C.3
Majewski, J.4
-
11
-
-
70349910898
-
Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data
-
Degner JF, Marioni JC, Pai AA, Pickrell JK, Nkadori E, Gilad Y, Pritchard JK. 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
Gilad, Y.6
Pritchard, J.K.7
-
12
-
-
33751011889
-
HTRA1 promoter polymorphism in wet age-related macular degeneration
-
DOI 10.1126/science.1133807
-
Dewan A, Liu M, Hartman S, Zhang SS, Liu DT, Zhao C, Tam PO, Chan WM, Lam DS, Snyder M, et al. 2006. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 314: 989-992. (Pubitemid 44749943)
-
(2006)
Science
, vol.314
, Issue.5801
, pp. 989-992
-
-
DeWan, A.1
Liu, M.2
Hartman, S.3
Zhang, S.S.-M.4
Liu, D.T.L.5
Zhao, C.6
Tam, P.O.S.7
Chan, W.M.8
Lam, D.S.C.9
Snyder, M.10
Barnstable, C.11
Pang, C.P.12
Hoh, J.13
-
13
-
-
34548805282
-
A genome-wide association study of global gene expression
-
DOI 10.1038/ng2109, PII NG2109
-
Dixon AL, Liang L, Moffatt MF, ChenW, Heath S, Wong KC, Taylor J, Burnett E, Gut I, Farrall M, et al. 2007. A genome-wide association study of global gene expression. Nat Genet 39: 1202-1207. (Pubitemid 47482680)
-
(2007)
Nature Genetics
, vol.39
, Issue.10
, pp. 1202-1207
-
-
Dixon, A.L.1
Liang, L.2
Moffatt, M.F.3
Chen, W.4
Heath, S.5
Wong, K.C.C.6
Taylor, J.7
Burnett, E.8
Gut, I.9
Farrall, M.10
Lathrop, G.M.11
Abecasis, G.R.12
Cookson, W.O.C.13
-
14
-
-
79959360783
-
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1
-
Dursun U, Koroglu C, Kocasoy Orhan E, Ugur SA, Tolun A. 2009. Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. Neurogenetics 10: 325-331.
-
(2009)
Neurogenetics
, vol.10
, pp. 325-331
-
-
Dursun, U.1
Koroglu, C.2
Kocasoy Orhan, E.3
Ugur, S.A.4
Tolun, A.5
-
15
-
-
63749112979
-
Systematic evaluation of the effect of common SNPs on pre-mRNA splicing
-
ElSharawy A, Hundrieser B, Brosch M, Wittig M, Huse K, Platzer M, Becker A, Simon M, Rosenstiel P, Schreiber S, et al. 2009. Systematic evaluation of the effect of common SNPs on pre-mRNA splicing. Hum Mutat 30: 625-632.
-
(2009)
Hum Mutat
, vol.30
, pp. 625-632
-
-
ElSharawy, A.1
Hundrieser, B.2
Brosch, M.3
Wittig, M.4
Huse, K.5
Platzer, M.6
Becker, A.7
Simon, M.8
Rosenstiel, P.9
Schreiber, S.10
-
16
-
-
41349095280
-
Genetics of gene expression and its effect on disease
-
Emilsson V, Thorleifsson G, Zhang B, Leonardson AS, Zink F, Zhu J, Carlson S, Helgason A,Walters GB, Gunnarsdottir S, et al. 2008. Genetics of gene expression and its effect on disease. Nature 452: 423-428.
-
(2008)
Nature
, vol.452
, pp. 423-428
-
-
Emilsson, V.1
Thorleifsson, G.2
Zhang, B.3
Leonardson, A.S.4
Zink, F.5
Zhu, J.6
Carlson, S.7
Helgason, A.8
Walters, G.B.9
Gunnarsdottir, S.10
-
17
-
-
0037443035
-
Pre-mRNA splicing and human disease
-
DOI 10.1101/gad.1048803
-
Faustino NA, Cooper TA. 2003. Pre-mRNA splicing and human disease. Genes Dev 17: 419-437. (Pubitemid 36258756)
-
(2003)
Genes and Development
, vol.17
, Issue.4
, pp. 419-437
-
-
Faustino, N.A.1
Cooper, T.A.2
-
18
-
-
33750710442
-
OAS1 gene haplotype confers susceptibility to multiple sclerosis
-
DOI 10.1111/j.1399-0039.2006.00694.x
-
Fedetz M, Matesanz F, Caro-Maldonado A, Fernandez O, Tamayo JA, Guerrero M, Delgado C, López-Guerrero JA, Alcina A. 2006. OAS1 gene haplotype confers susceptibility to multiple sclerosis. Tissue Antigens 68: 446-449. (Pubitemid 44707058)
-
(2006)
Tissue Antigens
, vol.68
, Issue.5
, pp. 446-449
-
-
Fedetz, M.1
Matesanz, F.2
Caro-Maldonado, A.3
Fernandez, O.4
Tamayo, J.A.5
Guerrero, M.6
Delgado, C.7
Lopez-Guerrero, J.A.8
Alcina, A.9
-
19
-
-
17844387429
-
OAS1 splice site polymorphism controlling antiviral enzyme activity influences susceptibility to type 1 diabetes
-
DOI 10.2337/diabetes.54.5.1588
-
Field LL, Bonnevie-Nielsen V, Pociot F, Lu S, Nielsen TB, Beck-Nielsen H. 2005. OAS1 splice site polymorphism controlling antiviral enzyme activity influences susceptibility to type 1 diabetes. Diabetes 54: 1588-1591. (Pubitemid 40586694)
-
(2005)
Diabetes
, vol.54
, Issue.5
, pp. 1588-1591
-
-
Field, L.L.1
Bonnevie-Nielsen, V.2
Pociot, F.3
Lu, S.4
Nielsen, T.B.5
Beck-Nielsen, H.6
-
20
-
-
77952497530
-
Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK
-
Fogarty MP, Xiao R, Prokunina-Olsson L, Scott LJ, Mohlke KL. 2010. Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK. Hum Mol Genet 19: 1921-1929.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1921-1929
-
-
Fogarty, M.P.1
Xiao, R.2
Prokunina-Olsson, L.3
Scott, L.J.4
Mohlke, K.L.5
-
21
-
-
70350651269
-
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, Verlaan DJ, Le J, Koka V, Lam KC, Gagné V, et al. 2009. Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nat Genet 41: 1216-1222.
-
(2009)
Nat Genet
, vol.41
, pp. 1216-1222
-
-
Ge, B.1
Pokholok, D.K.2
Kwan, T.3
Grundberg, E.4
Morcos, L.5
Verlaan, D.J.6
Le, J.7
Koka, V.8
Lam, K.C.9
Gagné, V.10
-
22
-
-
47249142778
-
Revealing the architecture of gene regulation: The promise of eQTL studies
-
Gilad Y, Rifkin SA, Pritchard JK. 2008. Revealing the architecture of gene regulation: The promise of eQTL studies. Trends Genet 24: 408-415.
-
(2008)
Trends Genet
, vol.24
, pp. 408-415
-
-
Gilad, Y.1
Rifkin, S.A.2
Pritchard, J.K.3
-
23
-
-
34548719076
-
Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes
-
Göring HH, Curran JE, Johnson MP, Dyer TD, Charlesworth J, Cole SA, Jowett JB, Abraham LJ, Rainwater DL, Comuzzie AG, et al. 2007. Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes. Nat Genet 39: 1208-1216.
-
(2007)
Nat Genet
, vol.39
, pp. 1208-1216
-
-
Göring, H.H.1
Curran, J.E.2
Johnson, M.P.3
Dyer, T.D.4
Charlesworth, J.5
Cole, S.A.6
Jowett, J.B.7
Abraham, L.J.8
Rainwater, D.L.9
Comuzzie, A.G.10
-
24
-
-
34249860408
-
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus
-
DOI 10.1073/pnas.0701266104
-
Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth T, Ortmann WA, HomG, et al. 2007. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci 104: 6758-6763. (Pubitemid 47175574)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.16
, pp. 6758-6763
-
-
Graham, R.R.1
Kyogoku, C.2
Sigurdsson, S.3
Vlasova, I.A.4
Davies, L.R.L.5
Baechler, E.C.6
Plenge, R.M.7
Koeuth, T.8
Ortmann, W.A.9
Hom, G.10
Bauer, J.W.11
Gillett, C.12
Burtt, N.13
Graham, D.S.C.14
Onofrio, R.15
Petri, M.16
Gunnarsson, I.17
Svenungsson, E.18
Ronnblom, L.19
Nordmark, G.20
Gregersen, P.K.21
Moser, K.22
Gaffney, P.M.23
Criswell, L.A.24
Vyse, T.J.25
Syvanen, A.-C.26
Bohjanen, P.R.27
Daly, M.J.28
Behrens, T.W.29
Altshuler, D.30
more..
-
25
-
-
77957663917
-
Alternative expression analysis by RNA sequencing
-
Griffith M, Griffith OL, Mwenifumbo J, Goya R, Morrissy AS, Morin RD, Corbett R, Tang MJ, Hou YC, Pugh TJ, et al. 2010. Alternative expression analysis by RNA sequencing. Nat Methods 7: 843-847.
-
(2010)
Nat Methods
, vol.7
, pp. 843-847
-
-
Griffith, M.1
Griffith, O.L.2
Mwenifumbo, J.3
Goya, R.4
Morrissy, A.S.5
Morin, R.D.6
Corbett, R.7
Tang, M.J.8
Hou, Y.C.9
Pugh, T.J.10
-
26
-
-
58149163446
-
Tissue-specific genetic control of splicing: Implications for the study of complex traits
-
doi: 10.1371/journal.pbio.1000001
-
Heinzen EL, Ge D, Cronin KD, Maia JM, Shianna KV, Gabriel WN, Welsh-Bohmer KA, Hulette CM, Denny TN, Goldstein DB. 2008. Tissue-specific genetic control of splicing: implications for the study of complex traits. PLoS Biol 6: e1. doi: 10.1371/journal.pbio.1000001.
-
(2008)
PLoS Biol
, vol.6
-
-
Heinzen, E.L.1
Ge, D.2
Cronin, K.D.3
Maia, J.M.4
Shianna, K.V.5
Gabriel, W.N.6
Welsh-Bohmer, K.A.7
Hulette, C.M.8
Denny, T.N.9
Goldstein, D.B.10
-
27
-
-
34547631469
-
Heritability of alternative splicing in the human genome
-
DOI 10.1101/gr.6281007
-
Kwan T, Benovoy D, Dias C, Gurd S, Serre D, Zuzan H, Clark TA, Schweitzer A, Staples MK, Wang H, et al. 2007. Heritability of alternative splicing in the human genome. Genome Res 17: 1210-1218. (Pubitemid 47204865)
-
(2007)
Genome Research
, vol.17
, Issue.8
, pp. 1210-1218
-
-
Kwan, T.1
Benovoy, D.2
Dias, C.3
Gurd, S.4
Serre, D.5
Zuzan, H.6
Clark, T.A.7
Schweitzer, A.8
Staples, M.K.9
Wang, H.10
Blume, J.E.11
Hudson, T.J.12
Sladek, R.13
Majewski, J.14
-
28
-
-
38649090044
-
Genome-wide analysis of transcript isoform variation in humans
-
DOI 10.1038/ng.2007.57, PII NG200757
-
Kwan T, Benovoy D, Dias C, Gurd S, Provencher C, Beaulieu P, Hudson TJ, Sladek R, Majewski J. 2008. Genome-wide analysis of transcript isoform variation in humans. Nat Genet 40: 225-231. (Pubitemid 351171391)
-
(2008)
Nature Genetics
, vol.40
, Issue.2
, pp. 225-231
-
-
Kwan, T.1
Benovoy, D.2
Dias, C.3
Gurd, S.4
Provencher, C.5
Beaulieu, P.6
Hudson, T.J.7
Sladek, R.8
Majewski, J.9
-
29
-
-
70149112830
-
Tissue effect on genetic control of transcript isoform variation
-
doi: 10.1371/journal.pgen.1000608
-
Kwan T, Grundberg E, Koka V, Ge B, Lam KC, Dias C, Kindmark A, Mallmin H, Ljunggren O, Rivadeneira F, et al. 2009. Tissue effect on genetic control of transcript isoform variation. PLoS Genet 5: e1000608. doi: 10.1371/journal.pgen. 1000608.
-
(2009)
PLoS Genet
, vol.5
-
-
Kwan, T.1
Grundberg, E.2
Koka, V.3
Ge, B.4
Lam, K.C.5
Dias, C.6
Kindmark, A.7
Mallmin, H.8
Ljunggren, O.9
Rivadeneira, F.10
-
30
-
-
67649884743
-
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
-
31
-
-
68549104404
-
The Sequence alignment/map (SAM) format and SAMtools
-
1000 Genome Project Data Processing Subgroup
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R, 1000 Genome Project Data Processing Subgroup. 2009. The Sequence alignment/map (SAM) format and SAMtools. Bioinformatics 25: 2078-2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
Marth, G.7
Abecasis, G.8
Durbin, R.9
-
32
-
-
61449157813
-
Genetic variation in OAS1 is a risk factor for initial infection with West Nile virus inman
-
doi: 10.1371/journal.ppat.1000321
-
Lim JK, Lisco A, McDermott DH, Huynh L, Ward JM, Johnson B, Johnson H, Pape J, Foster GA, Krysztof D, et al. 2009. Genetic variation in OAS1 is a risk factor for initial infection with West Nile virus inman. PLoS Pathog 5: e1000321. doi: 10.1371/journal.ppat.1000321.
-
(2009)
PLoS Pathog
, vol.5
-
-
Lim, J.K.1
Lisco, A.2
McDermott, D.H.3
Huynh, L.4
Ward, J.M.5
Johnson, B.6
Johnson, H.7
Pape, J.8
Foster, G.A.9
Krysztof, D.10
-
33
-
-
76249133498
-
Distinct antiviral roles for human 29,59-oligoadenylate synthetase family members against dengue virus infection
-
Lin RJ, Yu HP, Chang BL, Tang WC, Liao CL, Lin YL. 2009. Distinct antiviral roles for human 29,59-oligoadenylate synthetase family members against dengue virus infection. J Immunol 183: 8035-8043.
-
(2009)
J Immunol
, vol.183
, pp. 8035-8043
-
-
Lin, R.J.1
Yu, H.P.2
Chang, B.L.3
Tang, W.C.4
Liao, C.L.5
Lin, Y.L.6
-
34
-
-
50649089207
-
RNA-seq: An assessment of technical reproducibility and comparison with gene expression arrays
-
Marioni JC, Mason CE, Mane SM, Stephens M, Gilad Y. 2008. RNA-seq: An assessment of technical reproducibility and comparison with gene expression arrays. Genome Res 18: 1509-1517.
-
(2008)
Genome Res
, vol.18
, pp. 1509-1517
-
-
Marioni, J.C.1
Mason, C.E.2
Mane, S.M.3
Stephens, M.4
Gilad, Y.5
-
35
-
-
77950458649
-
Transcriptome genetics using second generation sequencing in a Caucasian population
-
Montgomery SB, Sammeth M, Gutierrez-Arcelus M, Lach RP, Ingle C, Nisbett J, Guigo R, Dermitzakis ET. 2010. Transcriptome genetics using second generation sequencing in a Caucasian population. Nature 464: 773-777.
-
(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
Guigo, R.7
Dermitzakis, E.T.8
-
36
-
-
4043128071
-
Genetic analysis of genome-wide variation in human gene expression
-
DOI 10.1038/nature02797
-
Morley M, Molony CM, Weber TM, Devlin JL, Ewens KG, Spielman RS, Cheung VG. 2004. Genetic analysis of genome-wide variation in human gene expression. Nature 430: 743-747. (Pubitemid 39071339)
-
(2004)
Nature
, vol.430
, Issue.7001
, pp. 743-747
-
-
Morloy, M.1
Molony, C.M.2
Weber, T.M.3
Devlin, J.L.4
Ewens, K.G.5
Spielman, R.S.6
Cheung, V.G.7
-
37
-
-
46249106990
-
Mapping and quantifying mammalian transcriptomes by RNA-Seq
-
DOI 10.1038/nmeth.1226, PII NMETH.1226
-
Mortazavi A, Williams BA, McCue K, Schaeffer L, Wold B. 2008. Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat Methods 5: 621-628. (Pubitemid 351911867)
-
(2008)
Nature Methods
, vol.5
, Issue.7
, pp. 621-628
-
-
Mortazavi, A.1
Williams, B.A.2
McCue, K.3
Schaeffer, L.4
Wold, B.5
-
38
-
-
77955499945
-
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
-
Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE, Ahfeldt T, Sachs KV, Li X, Li H, Kuperwasser N, Ruda VM, et al. 2010. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature 466: 714-719.
-
(2010)
Nature
, vol.466
, pp. 714-719
-
-
Musunuru, K.1
Strong, A.2
Frank-Kamenetsky, M.3
Lee, N.E.4
Ahfeldt, T.5
Sachs, K.V.6
Li, X.7
Li, H.8
Kuperwasser, N.9
Ruda, V.M.10
-
39
-
-
77952367694
-
Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations
-
doi: 10.1371/journal.pgen.1000895
-
Nica AC, Montgomery SB, Dimas AS, Stranger BE, Beazley C, Barroso I, Dermitzakis ET. 2010. Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations. PLoS Genet 6: e1000895. doi: 10.1371/journal.pgen.1000895.
-
(2010)
PLoS Genet
, vol.6
-
-
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
-
40
-
-
33746393852
-
Influence of human genome polymorphism on gene expression
-
Pastinen T, Ge B, Hudson TJ. 2006. Influence of human genome polymorphism on gene expression. Hum Mol Genet 15: R9-R16.
-
(2006)
Hum Mol Genet
, vol.15
-
-
Pastinen, T.1
Ge, B.2
Hudson, T.J.3
-
41
-
-
77950460661
-
Understanding mechanisms underlying human gene expression variation with RNA sequencing
-
Pickrell JK, Marioni JC, Pai AA, Degner JF, Engelhardt BE, Nkadori E, Veyrieras JB, Stephens M, Gilad Y, Pritchard JK. 2010. Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature 464: 768-772.
-
(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
Veyrieras, J.B.7
Stephens, M.8
Gilad, Y.9
Pritchard, J.K.10
-
42
-
-
34250028203
-
Inactivation of RB1 in mantle-cell lymphoma detected by nonsense-mediated mRNA decay pathway inhibition and microarray analysis
-
DOI 10.1182/blood-2006-11-057208
-
Pinyol M, Bea S, Plà L, Ribrag V, Bosq J, Rosenwald A, Campo E, Jares P. 2007. Inactivation of RB1 in mantle-cell lymphoma detected by nonsense-mediated mRNA decay pathway inhibition and microarray analysis. Blood 109: 5422-5429. (Pubitemid 46890565)
-
(2007)
Blood
, vol.109
, Issue.12
, pp. 5422-5429
-
-
Pinyol, M.1
Bea, S.2
Pla, L.3
Ribrag, V.4
Bosq, J.5
Rosenwald, A.6
Campo, E.7
Jares, P.8
-
43
-
-
75549089967
-
The UCSC Genome Browser database: Update 2010
-
Rhead B, Karolchik D, Kuhn RM, Hinrichs AS, Zweig AS, Fujita PA, Diekhans M, Smith KE, Rosenbloom KR, Raney BJ, et al. 2010. The UCSC Genome Browser database: update 2010. Nucleic Acids Res 38: D613-D619.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Rhead, B.1
Karolchik, D.2
Kuhn, R.M.3
Hinrichs, A.S.4
Zweig, A.S.5
Fujita, P.A.6
Diekhans, M.7
Smith, K.E.8
Rosenbloom, K.R.9
Raney, B.J.10
-
44
-
-
46249092601
-
Proliferating cells express mRNAs with shortened 3′ untranslated regions and fewer microRNA target sites
-
DOI 10.1126/science.1155390
-
Sandberg R, Neilson JR, Sarma A, Sharp PA, Burge CB. 2008. Proliferating cells express mRNAs with shortened 3′ untranslated regions and fewer microRNA target sites. Science 320: 1643-1647. (Pubitemid 351931255)
-
(2008)
Science
, vol.320
, Issue.5883
, pp. 1643-1647
-
-
Sandberg, R.1
Neilson, J.R.2
Sarma, A.3
Sharp, P.A.4
Burge, C.B.5
-
46
-
-
55449112185
-
Genome-wide associations of gene expression variation in humans
-
doi: 10.1371/journal.pgen.0010078
-
Stranger BE, Forrest MS, Clark AG, Minichiello MJ, Deutsch S, Lyle R, Hunt S, Kahl B, Antonarakis SE, Tavaré S, et al. 2005. Genome-wide associations of gene expression variation in humans. PLoS Genet 1: e78. doi: 10.1371/journal.pgen.0010078.
-
(2005)
PLoS Genet
, vol.1
-
-
Stranger, B.E.1
Forrest, M.S.2
Clark, A.G.3
Minichiello, M.J.4
Deutsch, S.5
Lyle, R.6
Hunt, S.7
Kahl, B.8
Antonarakis, S.E.9
Tavaré, S.10
-
47
-
-
55449112450
-
High-resolution mapping of expression-QTLs yields insight into human gene regulation
-
doi: 10.1371/journal.pgen.1000214
-
Veyrieras JB, Kudaravalli S, Kim SY, Dermitzakis ET, Gilad Y, Stephens M, Pritchard JK. 2008. High-resolution mapping of expression-QTLs yields insight into human gene regulation. PLoS Genet 4: e1000214. doi: 10.1371/journal.pgen. 1000214.
-
(2008)
PLoS Genet
, vol.4
-
-
Veyrieras, J.B.1
Kudaravalli, S.2
Kim, S.Y.3
Dermitzakis, E.T.4
Gilad, Y.5
Stephens, M.6
Pritchard, J.K.7
-
48
-
-
56549101959
-
Alternative isoform regulation in human tissue transcriptomes
-
DOI 10.1038/nature07509, PII NATURE07509
-
Wang ET, Sandberg R, Luo S, Khrebtukova I, Zhang L, Mayr C, Kingsmore SF, Schroth GP, Burge CB. 2008. Alternative isoform regulation in human tissue transcriptomes. Nature 456: 470-476. (Pubitemid 352759009)
-
(2008)
Nature
, vol.456
, Issue.7221
, pp. 470-476
-
-
Wang, E.T.1
Sandberg, R.2
Luo, S.3
Khrebtukova, I.4
Zhang, L.5
Mayr, C.6
Kingsmore, S.F.7
Schroth, G.P.8
Burge, C.B.9
-
49
-
-
57749195712
-
RNA-Seq: A revolutionary tool for transcriptomics
-
Wang Z, Gerstein M, Snyder M. 2009. RNA-Seq: a revolutionary tool for transcriptomics. Nat Rev Genet 10: 57-63.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 57-63
-
-
Wang, Z.1
Gerstein, M.2
Snyder, M.3
-
50
-
-
2442441507
-
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
-
DOI 10.1089/1066527041410418
-
Yeo G, Burge CB. 2004. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11: 377-394. (Pubitemid 38901668)
-
(2004)
Journal of Computational Biology
, vol.11
, Issue.2-3
, pp. 377-394
-
-
Yeo, G.1
Burge, C.B.2
|