-
1
-
-
77950458649
-
Transcriptome genetics using second generation sequencing in a Caucasian population
-
20220756
-
Montgomery SB, Sammeth M, Gutierrez-arcelus M, Lach RP, Ingle C, Nisbet J, et al. (2010) Transcriptome genetics using second generation sequencing in a Caucasian population. Nature 464:773-777. doi: 10.1038/nature08903 PMID: 20220756
-
(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
Nisbet, J.6
-
2
-
-
77950460661
-
Understanding mechanisms underlying human gene expression variation with RNA sequencing
-
20220758
-
PickrellJK, Marioni JC, Pai A, Degner JF, Engelhardt BE, Nkadori E, et al. (2010) Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature 464:768-772. doi: 10.1038/nature08872 PMID: 20220758
-
(2010)
Nature
, vol.464
, pp. 768-772
-
-
Pickrell, J.K.1
Marioni, J.C.2
Pai, A.3
Degner, J.F.4
Engelhardt, B.E.5
Nkadori, E.6
-
3
-
-
4043128071
-
Genetic analysis of genome-wide variation in human gene expression
-
15269782
-
Morley M, Molony CM, Weber TM, Devlin JL, Ewens KG, Spielman R, et al. (2004) Genetic analysis of genome-wide variation in human gene expression. Nature 430:743-747. doi: 10.1038/nature02797 PMID: 15269782
-
(2004)
Nature
, vol.430
, pp. 743-747
-
-
Morley, M.1
Molony, C.M.2
Weber, T.M.3
Devlin, J.L.4
Ewens, K.G.5
Spielman, R.6
-
4
-
-
63849281404
-
Common polymorphic transcript variation in human disease
-
19189928
-
Fraser HB, Xie X (2009) Common polymorphic transcript variation in human disease. Genome Res 19:567-575. doi: 10.1101/gr.083477.108 PMID: 19189928
-
(2009)
Genome Res
, vol.19
, pp. 567-575
-
-
Fraser, H.B.1
Xie, X.2
-
5
-
-
84930640352
-
Small changes in expression affect predisposition to tumorigenesis
-
Markowitz S (2001) Small changes in expression affect predisposition to tumorigenesis. Nat Genet 1756:2001-2002. doi: 10.1038/ng799
-
(2001)
Nat Genet
, vol.1756
, pp. 2001-2002
-
-
Markowitz, S.1
-
6
-
-
45149099137
-
Allele-specific upregulation of FGFR2 increases susceptibility to breast cancer
-
18462018
-
Meyer KB, MaiaA-T, O'Reilly M, Teschendorff AE, Chin S-F, CaldosC, et al. (2008) Allele-specific upregulation of FGFR2 increases susceptibility to breast cancer. PLoSBiol 6:e108. doi: 10.1371/journal. pbio.0060108 PMID: 18462018
-
(2008)
PLoSBiol
, vol.6
, pp. e108
-
-
Meyer, K.B.1
Maia, A.-T.2
O'Reilly, M.3
Teschendorff, A.E.4
Chin, S.-F.5
Caldos, C.6
-
7
-
-
34547216747
-
Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma
-
17611496
-
Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, et al. (2007) Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 448:470-473. doi: 10. 1038/nature06014 PMID: 17611496
-
(2007)
Nature
, vol.448
, pp. 470-473
-
-
Moffatt, M.F.1
Kabesch, M.2
Liang, L.3
Dixon, A.L.4
Strachan, D.5
Heath, S.6
-
8
-
-
41349095280
-
Genetics of gene expression and its effect on disease
-
18344981
-
Emilsson V, Thorleifsson G, Zhang B, Leonardson AS, ZinkF, Zhu J, et al. (2008) Genetics of gene expression and its effect on disease. Nature 452:423-428. doi: 10.1038/nature06758 PMID: 18344981
-
(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
-
9
-
-
77954238686
-
Allele-specific methylation is prevalent and is contributed by CpG-SNPs in the human genome
-
20418490
-
Shoemaker R, Deng J, Wang W, Zhang K (2010) Allele-specific methylation is prevalent and is contributed by CpG-SNPs in the human genome. Genome Res: 883-889. doi: 10.1101/gr.104695.109 PMID: 20418490
-
(2010)
Genome Res
, pp. 883-889
-
-
Shoemaker, R.1
Deng, J.2
Wang, W.3
Zhang, K.4
-
10
-
-
84887320760
-
Extensive variation in chromatin states across humans
-
Kasowski M, Kyriazopoulou-Panagiotopoulou S, Grubert F, Zaugg JB, KundajeA, Liu Y, et al. (2013) Extensive Variation in Chromatin States Across Humans. Science 750. doi: 10.1126/science.1242510
-
(2013)
Science
, pp. 750
-
-
Kasowski, M.1
Kyriazopoulou-Panagiotopoulou, S.2
Grubert, F.3
Zaugg, J.B.4
Kundaje, A.5
Liu, Y.6
-
11
-
-
79953128580
-
Chromosome-wide analysis of parental allele-specific chromatin and DNA methylation
-
21321082
-
Singh P, WuX, Lee D-H, Li AX, RauchT, PfeiferG, et al. (2011) Chromosome-wide analysis of parental allele-specific chromatin and DNA methylation. Mol Cell Biol 31:1757-1770. doi: 10.1128/MCB. 00961-10 PMID: 21321082
-
(2011)
Mol Cell Biol
, vol.31
, pp. 1757-1770
-
-
Singh, P.1
Wu, X.2
Lee, D.-H.3
Li, A.X.4
Rauch, T.5
Pfeifer, G.6
-
12
-
-
34249725088
-
Allele-specific chromatin immunoprecipitation studies show genetic influence on chromatin state in human genome
-
17511522
-
KadotaM, Yang HH, Hu N, WangC, Hu Y, Taylor PR, et al. (2007) Allele-specific chromatin immunoprecipitation studies show genetic influence on chromatin state in human genome. PLoS Genet 3:e81. doi: 10.1371/journal.pgen. 0030081 PMID: 17511522
-
(2007)
PLoS Genet
, vol.3
, pp. e81
-
-
Kadota, M.1
Yang, H.H.2
Hu, N.3
Wang, C.4
Hu, Y.5
Taylor, P.R.6
-
13
-
-
77950833803
-
Variation in transcription factor binding among humans
-
Kasowski M, Grubert F, HeffelfingerC, Hariharan M, Asabere A, WaszakSM, et al. (2010) Variation in Transcription Factor Binding Among Humans. Science (80-:) 328:232-235. doi: 10.1126/science. 1183621
-
(2010)
Science (80-:)
, vol.328
, pp. 232-235
-
-
Kasowski, M.1
Grubert, F.2
Heffelfinger, C.3
Hariharan, M.4
Asabere, A.5
Waszak, S.M.6
-
14
-
-
34547631469
-
Heritability of alternative splicing in the human genome
-
17671095
-
Kwan T, Benovoy D, Dias C, Gurd S, Serre D, Zuzan H, et al. (2007) Heritability of alternative splicing in the human genome. Genome Res 17:1210-1218. doi: 10.1101/gr.6281007 PMID: 17671095
-
(2007)
Genome Res
, vol.17
, pp. 1210-1218
-
-
Kwan, T.1
Benovoy, D.2
Dias, C.3
Gurd, S.4
Serre, D.5
Zuzan, H.6
-
15
-
-
79953303842
-
RNAsequencing reveals the role of splicing polymorphisms in regulating human gene expression
-
21173033
-
Lalonde E, Ha KCH, Wang Z, Bemmo A, Kleinman CL, Kwan T, et al. (2011) RNAsequencing reveals the role of splicing polymorphisms in regulating human gene expression. Genome Res 21:545-554. doi: 10.1101/gr.111211.110 PMID: 21173033
-
(2011)
Genome Res
, vol.21
, pp. 545-554
-
-
Lalonde, E.1
Ha, K.C.H.2
Wang, Z.3
Bemmo, A.4
Kleinman, C.L.5
Kwan, T.6
-
16
-
-
84885645853
-
Transcriptome and genome sequencing uncovers functional variation in humans
-
24037378
-
Lappalainen T, Sammeth M, Friedländer MR, 't Hoen PAC, Monlong J, Rivas MA, et al. (2013) Transcriptome and genome sequencing uncovers functional variation in humans. Nature 501:506-511. doi: 10.1038/nature12531 PMID: 24037378
-
(2013)
Nature
, vol.501
, pp. 506-511
-
-
Lappalainen, T.1
Sammeth, M.2
Friedländer, M.R.3
'T Hoen, P.A.C.4
Monlong, J.5
Rivas, M.A.6
-
17
-
-
84891685308
-
Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals
-
24092820
-
Battle A, Mostafavi S, Zhu X, Potash JB, Weissman MM, McCormicC, et al. (2014) Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals. Genome Res 24:14-24. doi: 10.1101/gr.155192.113 PMID: 24092820
-
(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
McCormic, C.6
-
18
-
-
79151484424
-
The study of eQTL variations by RNA-seq: From SNPs to phenotypes
-
21122937
-
Majewski J, Pastinen T (2011) The study of eQTL variations by RNA-seq: from SNPs to phenotypes. Trends Genet 27:72-79. doi: 10.1016/j.tig.2010.10.006 PMID: 21122937
-
(2011)
Trends Genet
, vol.27
, pp. 72-79
-
-
Majewski, J.1
Pastinen, T.2
-
19
-
-
79956306617
-
Regulation of X-chromosome inactivation by the X-inactivation centre
-
21587299
-
Augui S, Nora EP, Heard E (2011) Regulation of X-chromosome inactivation by the X-inactivation centre. Nat Rev Genet 12:429-442. doi: 10.1038/nrg2987 PMID: 21587299
-
(2011)
Nat Rev Genet
, vol.12
, pp. 429-442
-
-
Augui, S.1
Nora, E.P.2
Heard, E.3
-
20
-
-
79960530899
-
Genomic imprinting: The emergence of an epigenetic paradigm
-
21765458
-
Ferguson-Smith AC (2011) Genomic imprinting: the emergence of an epigenetic paradigm. Nat Rev Genet 12:565-575. doi: 10.1038/nrg3032 PMID: 21765458
-
(2011)
Nat Rev Genet
, vol.12
, pp. 565-575
-
-
Ferguson-Smith, A.C.1
-
21
-
-
46249103973
-
Stem cell transcriptome profiling via massive-scale mRNA sequencing
-
18175409
-
Cloonan N, Forrest ARR, KolleG, Gardiner BBA, Faulkner GJ, Brown M, et al. (2008) Stem cell transcriptome profiling via massive-scale mRNA sequencing. Nat Methods: 1-7. doi: 10.1038/NMETH. 1223 PMID: 18175409
-
(2008)
Nat Methods
, pp. 1-7
-
-
Cloonan, N.1
Forrest, A.R.R.2
Kolle, G.3
Gardiner, B.B.A.4
Faulkner, G.J.5
Brown, M.6
-
22
-
-
46249106990
-
Mapping and quantifying mammalian transcriptomes by RNA-Seq
-
18516045
-
Mortazavi A, Williams BA, Mccue K, Schaeffer L, Wold B (2008) Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat Methods 5:621-628. doi: 10.1038/nmeth.1226 PMID: 18516045
-
(2008)
Nat Methods
, vol.5
, pp. 621-628
-
-
Mortazavi, A.1
Williams, B.A.2
Mccue, K.3
Schaeffer, L.4
Wold, B.5
-
23
-
-
77950368951
-
Distinct patterns of gene-specific methylation in mammalian placentas: Implications for placental evolution and function
-
20167366
-
Ng HK, Novakovic B, Hiendleder S, Craig JM, Roberts CT, Saffery R, et al. (2010) Distinct patterns of gene-specific methylation in mammalian placentas: implications for placental evolution and function. Placenta 31:259-268. doi: 10.1016/j.placenta.2010.01.009 PMID: 20167366
-
(2010)
Placenta
, vol.31
, pp. 259-268
-
-
Ng, H.K.1
Novakovic, B.2
Hiendleder, S.3
Craig, J.M.4
Roberts, C.T.5
Saffery, R.6
-
24
-
-
61449111951
-
Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation
-
18997001
-
Milani L, Lundmark A, Nordlund J, Kiialainen A, Flaegstad T, Jonmundsson G, et al. (2009) Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation. Genome Res 19:1-11. doi: 10.1101/gr.083931.108 PMID: 18997001
-
(2009)
Genome Res
, vol.19
, pp. 1-11
-
-
Milani, L.1
Lundmark, A.2
Nordlund, J.3
Kiialainen, A.4
Flaegstad, T.5
Jonmundsson, G.6
-
25
-
-
76049102972
-
Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing
-
19825846
-
HeapGA, Yang JHM, Downes K, Healy BC, Hunt KA, Bockettt N, et al. (2010) Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing. Hum Mol Genet 19:122-134. doi: 10.1093/hmg/ddp473 PMID: 19825846
-
(2010)
Hum Mol Genet
, vol.19
, pp. 122-134
-
-
Heap, G.A.1
Yang, J.H.M.2
Downes, K.3
Healy, B.C.4
Hunt, K.A.5
Bockettt, N.6
-
26
-
-
70349910898
-
Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data
-
19808877
-
Degner JF, Marioni JC, Pai A, PickrellJK, Nkadori E, Gilad Y, et al. (2009) Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data. Bioinformatics 25:3207-3212. doi: 10.1093/bioinformatics/btp579 PMID: 19808877
-
(2009)
Bioinformatics
, vol.25
, pp. 3207-3212
-
-
Degner, J.F.1
Marioni, J.C.2
Pai, A.3
Pickrell, J.K.4
Nkadori, E.5
Gilad, Y.6
-
27
-
-
84870568092
-
A new strategy to reduce allelic bias in RNA-Seq readmapping
-
21908400
-
Satya RV, Zavaljevski N, Reifman J (2012) A new strategy to reduce allelic bias in RNA-Seq readmapping. Nucleic Acids Res 40:1-9. doi: 10.1093/nar/gks425 PMID: 21908400
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 1-9
-
-
Satya, R.V.1
Zavaljevski, N.2
Reifman, J.3
-
28
-
-
80051489977
-
AlleleSeq: Analysis of allele-specific expression and binding in a network framework
-
Rozowsky J, AbyzovA, Wang J, Alves P, RahaD, Harmanci RF, et al. (2011) AlleleSeq: analysis of allele-specific expression and binding in a network framework. Mol SystBiol 7:1-15. doi: 10.1038/msb. 2011.54
-
(2011)
Mol SystBiol
, vol.7
, pp. 1-15
-
-
Rozowsky, J.1
Abyzov, A.2
Wang, J.3
Alves, P.4
Raha, D.5
Harmanci, R.F.6
-
29
-
-
84864453922
-
Identification of allele-specific alternative mRNA processing via transcriptome sequencing
-
21908400
-
Li G, Bahn JH, Lee J-H, PengG, Chen Z, Nelson SF, et al. (2012) Identification of allele-specific alternative mRNA processing via transcriptome sequencing. Nucleic Acids Res 40:1-13. doi: 10.1093/nar/gks280 PMID: 21908400
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 1-13
-
-
Li, G.1
Bahn, J.H.2
Lee, J.-H.3
Peng, G.4
Chen, Z.5
Nelson, S.F.6
-
30
-
-
80053522581
-
A powerful and flexible statistical framework for testing hypotheses of allele-specific gene expression from RNA-seq data
-
21873452
-
Skelly DA, Johansson M, Madeoy J, Wakefield J, AkeyJM (2011) A powerful and flexible statistical framework for testing hypotheses of allele-specific gene expression from RNA-seq data. Genome Res 21:1728-1737. doi: 10.1101/gr.119784.110.1728 PMID: 21873452
-
(2011)
Genome Res
, vol.21
, pp. 1728-1737
-
-
Skelly, D.A.1
Johansson, M.2
Madeoy, J.3
Wakefield, J.4
Akey, J.M.5
-
31
-
-
84859256941
-
Critical evaluation of imprinted gene expression by RNA-Seq: A new perspective
-
22479196
-
DeVeale B, Van Der Kooy D, BabakT (2012) Critical evaluation of imprinted gene expression by RNA-Seq: a new perspective. PLoS Genet 8:e1002600. doi: 10.1371/journal.pgen. 1002600 PMID: 22479196
-
(2012)
PLoS Genet
, vol.8
, pp. e1002600
-
-
De Veale, B.1
Van Der Kooy, D.2
Babak, T.3
-
32
-
-
84881042224
-
Sources of bias in measures of allele-specific expression derived from RNA-seq data aligned to a single reference genome
-
23919664
-
Stevenson KR, Coolon JD, Wittkopp PJ (2013) Sources of bias in measures of allele-specific expression derived from RNA-seq data aligned to a single reference genome. BMC Genomics 14:536. doi: 10.1186/1471-2164-14-536 PMID: 23919664
-
(2013)
BMC Genomics
, vol.14
, pp. 536
-
-
Stevenson, K.R.1
Coolon, J.D.2
Wittkopp, P.J.3
-
33
-
-
79751531332
-
Haplotype and isoform specific expression estimation using multi-mapping RNA-seq reads
-
21310039
-
Turro E, Su S-Y, Gonçalves A, Coin LJ, Richardson S, Lewin A, et al. (2011) Haplotype and isoform specific expression estimation using multi-mapping RNA-seq reads. Genome Biol 12:R13. doi: 10. 1186/gb-2011-12-2-r13 PMID: 21310039
-
(2011)
Genome Biol
, vol.12
, pp. R13
-
-
Turro, E.1
Su, S.-Y.2
Gonçalves, A.3
Coin, L.J.4
Richardson, S.5
Lewin, A.6
-
34
-
-
84860372128
-
The brisbane systems genetics study: Genetical genomics meets complex trait genetics
-
22563384
-
Powell JE, Henders AK, McRae AF, CaracellaA, Smith S, Wright MJ, et al. (2012) The Brisbane Systems Genetics Study: Genetical Genomics Meets Complex Trait Genetics. PLoS One 7:e35430. doi: 10.1371/journal.pone.0035430 PMID: 22563384
-
(2012)
PLoS One
, vol.7
, pp. e35430
-
-
Powell, J.E.1
Henders, A.K.2
McRae, A.F.3
Caracella, A.4
Smith, S.5
Wright, M.J.6
-
35
-
-
78651447845
-
The Uniqueome: Amappability resource for short-tag sequencing
-
21036813
-
Koehler R, IssacH, Cloonan N, Grimmond SM (2010) The Uniqueome: Amappability resource for short-tag sequencing. Bioinformatics: 1-2. doi: 10.1093/bioinformatics/btq640 PMID: 21036813
-
(2010)
Bioinformatics
, pp. 1-2
-
-
Koehler, R.1
Issac, H.2
Cloonan, N.3
Grimmond, S.M.4
-
36
-
-
84855989774
-
Fast computation and applications of genome mappability
-
22276185
-
Derrien T, Estellé J, Marco Sola S, Knowles DG, Raineri E, Guigo R, et al. (2012) Fast computation and applications of genome mappability. PLoS One 7:e30377. doi: 10.1371/journal.pone.0030377 PMID: 22276185
-
(2012)
PLoS One
, vol.7
, pp. e30377
-
-
Derrien, T.1
Estellé, J.2
Marco Sola, S.3
Knowles, D.G.4
Raineri, E.5
Guigo, R.6
-
37
-
-
35549001312
-
Genomic imprinting effects on brain development and function
-
17925812
-
Wilkinson LS, Davies W, Isles AR (2007) Genomic imprinting effects on brain development and function. Nat Rev Neurosci 8:832-843. doi: 10.1038/nrn2235 PMID: 17925812
-
(2007)
Nat Rev Neurosci
, vol.8
, pp. 832-843
-
-
Wilkinson, L.S.1
Davies, W.2
Isles, A.R.3
-
38
-
-
45149108420
-
Mapping the genetic architecture of gene expression in human liver
-
Schadt EE, Molony C, Chudin E, Hao K, YangX, Lum PY, et al. (2008) Mapping the Genetic Architecture of Gene Expression in Human Liver. PLoS Biol 6:1020-1032. doi: 10.1371/journal.pbio.0060107
-
(2008)
PLoS Biol
, vol.6
, pp. 1020-1032
-
-
Schadt, E.E.1
Molony, C.2
Chudin, E.3
Hao, K.4
Yang, X.5
Lum, P.Y.6
-
39
-
-
78449233933
-
Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation
-
20976248
-
Andrés AM, Dennis MY, Kretzschmar WW, Cannons JL, Lee-Lin S-Q, Hurle B, 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 PMID: 20976248
-
(2010)
PLoS Genet
, vol.6
, pp. e1001157
-
-
Andrés, A.M.1
Dennis, M.Y.2
Kretzschmar, W.W.3
Cannons, J.L.4
Lee-Lin, S.-Q.5
Hurle, B.6
-
40
-
-
0035164618
-
Effect of polymorphism in the human glutathione S-transferase A1 promoter on hepatic GSTA1 and GSTA2 expression
-
11692074
-
Coles BF, Morel F, Rauch C, HuberWW, YangM, Teitel CH, et al. (2001) Effect of polymorphism in the human glutathione S-transferase A1 promoter on hepatic GSTA1 and GSTA2 expression. Pharmacogenetics 11:663-669. PMID: 11692074
-
(2001)
Pharmacogenetics
, vol.11
, pp. 663-669
-
-
Coles, B.F.1
Morel, F.2
Rauch, C.3
Huber, W.W.4
Yang, M.5
Teitel, C.H.6
-
41
-
-
0036178690
-
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
-
11841538
-
WhittockN V, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, et al. (2002) Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 118:232-238. doi: 10.1046/j.0022-202x.2001.01664.x PMID: 11841538
-
(2002)
J Invest Dermatol
, vol.118
, pp. 232-238
-
-
Whittock N, V.1
Wan, H.2
Morley, S.M.3
Garzon, M.C.4
Kristal, L.5
Hyde, P.6
-
42
-
-
84887589436
-
Screening of pathogenic genes in Chinese patients with arrhythmogenic right ventricular cardiomyopathy
-
24238504
-
Jing-ru B, Ji-zheng W, Yan Y, Yi-lu W, Xiao-han F, Kai S, et al. (2013) Screening of pathogenic genes in Chinese patients with arrhythmogenic right ventricular cardiomyopathy. Chin Med J 126:4238-4241. doi: 10.3760/cma.j.issn.0366-PMID: 24238504
-
(2013)
Chin Med J
, vol.126
, pp. 4238-4241
-
-
Jing-ru, B.1
Ji-zheng, W.2
Yan, Y.3
Yi-lu, W.4
Xiao-han, F.5
Kai, S.6
-
43
-
-
72149121577
-
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta
-
19853237
-
El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, et al. (2009) Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet 85:699-705. doi: 10.1016/j.ajhg.2009.09.014 PMID: 19853237
-
(2009)
Am J Hum Genet
, vol.85
, pp. 699-705
-
-
El-Sayed, W.1
Parry, D.A.2
Shore, R.C.3
Ahmed, M.4
Jafri, H.5
Rashid, Y.6
-
44
-
-
71249155461
-
A regulatory single nucleotide polymorphism in the ubiquitin D gene associated with celiac disease
-
19808075
-
Castellanos-Rubio A, Santin I, Irastorza I, Sanchez-Valverde F, Castaño L, Vitoria JC, et al. (2010) A regulatory single nucleotide polymorphism in the ubiquitin D gene associated with celiac disease. Hum Immunol 71:96-99. doi: 10.1016/j.humimm.2009.09.359 PMID: 19808075
-
(2010)
Hum Immunol
, vol.71
, pp. 96-99
-
-
Castellanos-Rubio, A.1
Santin, I.2
Irastorza, I.3
Sanchez-Valverde, F.4
Castaño, L.5
Vitoria, J.C.6
-
45
-
-
78149270873
-
An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)
-
20843825
-
Fritsche LG, Lauer N, Hartmann A, StippaS, KeilhauerCN, Oppermann M, et al. (2010) An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). Hum Mol Genet 19:4694-4704. doi: 10.1093/hmg/ddq399 PMID: 20843825
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4694-4704
-
-
Fritsche, L.G.1
Lauer, N.2
Hartmann, A.3
Stippa, S.4
Keilhauer, C.N.5
Oppermann, M.6
-
46
-
-
69549135202
-
To localize or not to localize: Mrnafate is in 3'UTR ends
-
19716303
-
Andreassi C, Riccio A (2009) To localize or not to localize: mRNAfate is in 3'UTR ends. Trends Cell Biol 19:465-474. doi: 10.1016/j.tcb.2009.06.001 PMID: 19716303
-
(2009)
Trends Cell Biol
, vol.19
, pp. 465-474
-
-
Andreassi, C.1
Riccio, A.2
-
47
-
-
77949587649
-
Fast and accurate long-read alignment with Burrows-Wheelertransform
-
20080505
-
Li H, Durbin R (2010) Fast and accurate long-read alignment with Burrows-Wheelertransform. Bioinformatics 26:589-595. doi: 10.1093/bioinformatics/btp698 PMID: 20080505
-
(2010)
Bioinformatics
, vol.26
, pp. 589-595
-
-
Li, H.1
Durbin, R.2
-
48
-
-
68549104404
-
The sequence alignment/map format and SAMtools
-
19505943
-
Li H, HandsakerB, WysokerA, FennellT, Ruan J, Homer N, et al. (2009) The Sequence Alignment/Map format and SAMtools. Bioinformatics 25:2078-2079. doi: 10.1093/bioinformatics/btp352 PMID: 19505943
-
(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
-
49
-
-
84892666603
-
Somatic point mutation calling in low cellularity tumors
-
24250782
-
Kassahn KS, Holmes O, Nones K, Patch A-M, Miller DK, Christ AN, et al. (2013) Somatic Point Mutation Calling in LowCellularity Tumors. PLoSOne 8:e74380. doi: 10.1371/journal.pone.0074380 PMID: 24250782
-
(2013)
PLoSOne
, vol.8
, pp. e74380
-
-
Kassahn, K.S.1
Holmes, O.2
Nones, K.3
Patch, A.-M.4
Miller, D.K.5
Christ, A.N.6
-
50
-
-
70350694443
-
Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
-
19561018
-
Ye K, Schulz MH, Long Q, Apweiler R, Ning Z (2009) Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 25:2865-2871. doi: 10.1093/bioinformatics/btp394 PMID: 19561018
-
(2009)
Bioinformatics
, vol.25
, pp. 2865-2871
-
-
Ye, K.1
Schulz, M.H.2
Long, Q.3
Apweiler, R.4
Ning, Z.5
-
51
-
-
70350694448
-
IntegrOmics: An R package to unravel relationships between two omics datasets
-
19706745
-
Lê Cao K-A, González I, Déjean S (2009) integrOmics: an R package to unravel relationships between two omics datasets. Bioinformatics 25:2855-2856. doi: 10.1093/bioinformatics/btp515 PMID: 19706745
-
(2009)
Bioinformatics
, vol.25
, pp. 2855-2856
-
-
Lê Cao, K.-A.1
González, I.2
Déjean, S.3
-
52
-
-
78649508578
-
MaCH: Using sequence and genotype data to estimate haplotypes and unobserved genotypes
-
21058334
-
Li Y, WillerCJ, Ding J, Scheet P, Abecasis GR (2010) MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 34:816-834. doi: 10.1002/gepi. 20533 PMID: 21058334
-
(2010)
Genet Epidemiol
, vol.34
, pp. 816-834
-
-
Li, Y.1
Willer, C.J.2
Ding, J.3
Scheet, P.4
Abecasis, G.R.5
-
53
-
-
84876996918
-
TopHat2: Accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions
-
23618408
-
Kim D, PerteaG, TrapnellC, Pimentel H, Kelley R, SalzbergS (2013) TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions. Genome Biol 14:R36. doi: 10.1186/gb-2013-14-4-r36 PMID: 23618408
-
(2013)
Genome Biol
, vol.14
, pp. R36
-
-
Kim, D.1
Pertea, G.2
Trapnell, C.3
Pimentel, H.4
Kelley, R.5
Salzberg, S.6
-
54
-
-
84859885816
-
Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks
-
22383036
-
TrapnellC, Roberts A, Goff L, PerteaG, Kim D, Kelley DR, et al. (2012) Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks. Nat Protoc 7:562-578. doi: 10.1038/nprot.2012.016 PMID: 22383036
-
(2012)
Nat Protoc
, vol.7
, pp. 562-578
-
-
Trapnell, C.1
Roberts, A.2
Goff, L.3
Pertea, G.4
Kim, D.5
Kelley, D.R.6
-
55
-
-
84875634162
-
Integrative Genomics Viewer (IGV): High-performance genomics data visualization and exploration
-
22517427
-
Thorvaldsdóttir H, Robinson JT, Mesirov JP (2013) Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform 14:178-192. doi: 10.1093/bib/bbs017 PMID: 22517427
-
(2013)
Brief Bioinform
, vol.14
, pp. 178-192
-
-
Thorvaldsdóttir, H.1
Robinson, J.T.2
Mesirov, J.P.3
|