-
1
-
-
67651173033
-
Identification of candidate regulatory SNPs by combination of transcription-factor-binding site prediction, SNP genotyping and haploChIP
-
PID: 19451166
-
Ameur A, Rada-Iglesias A, Komorowski J, Wadelius C (2009) Identification of candidate regulatory SNPs by combination of transcription-factor-binding site prediction, SNP genotyping and haploChIP. Nucleic Acids Res 37:e85
-
(2009)
Nucleic Acids Res
, vol.37
, pp. e85
-
-
Ameur, A.1
Rada-Iglesias, A.2
Komorowski, J.3
Wadelius, C.4
-
2
-
-
84891697734
-
Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits
-
COI: 1:CAS:528:DC%2BC2cXosVCjtw%3D%3D, PID: 24196873
-
Corradin O et al (2014) Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits. Genome Res 24:1–13. doi:10.1101/gr.164079.113
-
(2014)
Genome Res
, vol.24
, pp. 1-13
-
-
Corradin, O.1
-
3
-
-
84868198825
-
Breast cancer risk-associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression
-
Cowper-Sal R et al (2012) Breast cancer risk-associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression. Nat Genet 44:1191–1198 doi:10.1038/ng.2416
-
(2012)
Nat Genet
, vol.44
, pp. 1191-1198
-
-
Cowper-Sal, R.1
-
4
-
-
84925842188
-
Analyses of allele-specific gene expression in highly divergent mouse crosses identifies pervasive allelic imbalance
-
COI: 1:CAS:528:DC%2BC2MXjs1Gqs7w%3D, PID: 25730764
-
Crowley JJ et al (2015) Analyses of allele-specific gene expression in highly divergent mouse crosses identifies pervasive allelic imbalance. Nat Genet 47:353–360. doi:10.1038/ng.3222
-
(2015)
Nat Genet
, vol.47
, pp. 353-360
-
-
Crowley, J.J.1
-
5
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
COI: 1:CAS:528:DC%2BC3MXksFWguro%3D, PID: 21478889
-
DePristo MA et al (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491–498. doi:10.1038/ng.806
-
(2011)
Nat Genet
, vol.43
, pp. 491-498
-
-
DePristo, M.A.1
-
6
-
-
84872143942
-
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
-
Fu W et al (2013) Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 493:216–220 doi:10.1038/nature11690
-
(2013)
Nature
, vol.493
, pp. 216-220
-
-
Fu, W.1
-
7
-
-
34447534298
-
Mitogen- and stress-activated protein kinase 2 and cyclic AMP response element binding protein are activated in lesional psoriatic epidermis
-
COI: 1:CAS:528:DC%2BD2sXns1ylsrg%3D, PID: 17429437
-
Funding AT, Johansen C, Kragballe K, Iversen L (2007) Mitogen- and stress-activated protein kinase 2 and cyclic AMP response element binding protein are activated in lesional psoriatic epidermis. J Invest Dermatol 127:2012–2019. doi:10.1038/sj.jid.5700821
-
(2007)
J Invest Dermatol
, vol.127
, pp. 2012-2019
-
-
Funding, A.T.1
Johansen, C.2
Kragballe, K.3
Iversen, L.4
-
8
-
-
84940391986
-
Genetic control of chromatin states in humans involves local and distal chromosomal interactions
-
Grubert F et al (2015) Genetic control of chromatin states in humans involves local and distal chromosomal interactions. Cell 162:1051-1065 doi:10.1016/j.cell.2015.07.048
-
(2015)
Cell
, vol.162
, pp. 1051-1065
-
-
Grubert, F.1
-
9
-
-
84964239102
-
-
Manolio TA: A catalog of published genome-wide association studies
-
Hindorff LA, MacArthur J, Morales J, Junkins HA, Hall PN, Klemm AK, Manolio TA (2011) A catalog of published genome-wide association studies. www.genome.gov/gwastudies. Accessed 1 July 2014
-
(2011)
Klemm AK
-
-
Hindorff, L.A.1
MacArthur, J.2
Morales, J.3
Junkins, H.A.4
Hall, P.N.5
-
10
-
-
84895800675
-
A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 chromatin binding
-
COI: 1:CAS:528:DC%2BC2cXis1Gksw%3D%3D, PID: 24390282
-
Huang Q et al (2014) A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 chromatin binding. Nat Genet 46:126–135. doi:10.1038/ng.2862
-
(2014)
Nat Genet
, vol.46
, pp. 126-135
-
-
Huang, Q.1
-
11
-
-
57249114505
-
SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap
-
Johnson AD, Handsaker RE, Pulit SL, Nizzari MM, O’Donnell CJ, de Bakker PI (2008) SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 24:2938–2939. doi:10.1093/bioinformatics/btn564
-
(2008)
Bioinformatics
, vol.24
, pp. 2938-2939
-
-
Johnson, A.D.1
Handsaker, R.E.2
Pulit, S.L.3
Nizzari, M.M.4
O’Donnell, C.J.5
de Bakker, P.I.6
-
12
-
-
77950833803
-
Variation in transcription factor binding among humans
-
COI: 1:CAS:528:DC%2BC3cXkt1Cgt7s%3D, PID: 20299548
-
Kasowski M et al (2010) Variation in transcription factor binding among humans. Science 328:232–235
-
(2010)
Science
, vol.328
, pp. 232-235
-
-
Kasowski, M.1
-
13
-
-
84860817223
-
Recent explosive human population growth has resulted in an excess of rare genetic variants
-
COI: 1:CAS:528:DC%2BC38XmsFymu70%3D, PID: 22582263
-
Keinan A, Clark AG (2012) Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 336:740–743. doi:10.1126/science.1217283
-
(2012)
Science
, vol.336
, pp. 740-743
-
-
Keinan, A.1
Clark, A.G.2
-
14
-
-
84877147962
-
Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay
-
COI: 1:CAS:528:DC%2BC3sXntVCmsbc%3D, PID: 23512712
-
Kheradpour P et al (2013) Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay. Genome Res 23:800–811. doi:10.1101/gr.144899.112
-
(2013)
Genome Res
, vol.23
, pp. 800-811
-
-
Kheradpour, P.1
-
15
-
-
84885645853
-
Transcriptome and genome sequencing uncovers functional variation in humans
-
COI: 1:CAS:528:DC%2BC3sXhsVertLzN, PID: 24037378
-
Lappalainen T et al (2013) Transcriptome and genome sequencing uncovers functional variation in humans. Nature 501:506–511. doi:10.1038/nature12531
-
(2013)
Nature
, vol.501
, pp. 506-511
-
-
Lappalainen, T.1
-
16
-
-
84930092220
-
Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease
-
Li AH et al (2015) Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease. Nat Genet. doi:10.1038/ng.3270
-
(2015)
Nat Genet
-
-
Li, A.H.1
-
17
-
-
43249083380
-
A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci
-
PID: 18369459
-
Liu Y et al (2008) A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet 4:e1000041. doi:10.1371/journal.pgen.1000041
-
(2008)
PLoS Genet
, vol.4
, pp. e1000041
-
-
Liu, Y.1
-
18
-
-
84866924593
-
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis
-
COI: 1:CAS:528:DC%2BC38Xhtlajs7zP, PID: 22961000
-
Liu JZ et al (2012) Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. Nat Genet 44:1137–1141. doi:10.1038/ng.2395
-
(2012)
Nat Genet
, vol.44
, pp. 1137-1141
-
-
Liu, J.Z.1
-
19
-
-
0028080267
-
NOT, a human immediate-early response gene closely related to the steroid/thyroid hormone receptor NAK1/TR3
-
COI: 1:CAS:528:DyaK2MXisVKjt7w%3D, PID: 7877627
-
Mages HW, Rilke O, Bravo R, Senger G, Kroczek RA (1994) NOT, a human immediate-early response gene closely related to the steroid/thyroid hormone receptor NAK1/TR3. Mol Endocrinol 8:1583–1591. doi:10.1210/mend.8.11.7877627
-
(1994)
Mol Endocrinol
, vol.8
, pp. 1583-1591
-
-
Mages, H.W.1
Rilke, O.2
Bravo, R.3
Senger, G.4
Kroczek, R.A.5
-
20
-
-
84865822182
-
Systematic localization of common disease-associated variation in regulatory DNA
-
COI: 1:CAS:528:DC%2BC38Xht1ylsLfL, PID: 22955828
-
Maurano MT et al (2012) Systematic localization of common disease-associated variation in regulatory DNA. Science 337:1190–1195. doi:10.1126/science.1222794
-
(2012)
Science
, vol.337
, pp. 1190-1195
-
-
Maurano, M.T.1
-
21
-
-
84949091882
-
Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo
-
COI: 1:CAS:528:DC%2BC2MXhslant7nE, PID: 26502339
-
Maurano MT, Haugen E, Sandstrom R, Vierstra J, Shafer A, Kaul R, Stamatoyannopoulos JA (2015) Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo. Nat Genet 47:1393–1401. doi:10.1038/ng.3432
-
(2015)
Nat Genet
, vol.47
, pp. 1393-1401
-
-
Maurano, M.T.1
Haugen, E.2
Sandstrom, R.3
Vierstra, J.4
Shafer, A.5
Kaul, R.6
Stamatoyannopoulos, J.A.7
-
22
-
-
84875341635
-
Patchwork: allele-specific copy number analysis of whole-genome sequenced tumor tissue
-
PID: 23531354
-
Mayrhofer M, DiLorenzo S, Isaksson A (2013) Patchwork: allele-specific copy number analysis of whole-genome sequenced tumor tissue. Genome Biol 14:R24
-
(2013)
Genome Biol
, vol.14
, pp. R24
-
-
Mayrhofer, M.1
DiLorenzo, S.2
Isaksson, A.3
-
23
-
-
76249083492
-
Differential binding and co-binding pattern of FOXA1 and FOXA3 and their relation to H3K4me3 in HepG2 cells revealed by ChIP-seq
-
PID: 19919681
-
Motallebipour M et al (2009) Differential binding and co-binding pattern of FOXA1 and FOXA3 and their relation to H3K4me3 in HepG2 cells revealed by ChIP-seq. Genome Biol 10:R129
-
(2009)
Genome Biol
, vol.10
, pp. R129
-
-
Motallebipour, M.1
-
24
-
-
77955499945
-
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
-
COI: 1:CAS:528:DC%2BC3cXhtVSmurbO, PID: 20686566
-
Musunuru K 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
-
25
-
-
77950651133
-
High-resolution DNA analysis of human embryonic stem cell lines reveals culture-induced copy number changes and loss of heterozygosity
-
Narva E et al (2010) High-resolution DNA analysis of human embryonic stem cell lines reveals culture-induced copy number changes and loss of heterozygosity. Nat Biotech 28:371–377. http://www.nature.com/nbt/journal/v28/n4/abs/nbt.1615.html#supplementary-information
-
(2010)
Nat Biotech
, vol.28
, pp. 371-377
-
-
Narva, E.1
-
26
-
-
84894288992
-
Genetics of rheumatoid arthritis contributes to biology and drug discovery
-
COI: 1:CAS:528:DC%2BC2cXivVCjs78%3D, PID: 24390342
-
Okada Y et al (2014) Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature 506:376–381. doi:10.1038/nature12873
-
(2014)
Nature
, vol.506
, pp. 376-381
-
-
Okada, Y.1
-
27
-
-
84859916280
-
Effects of sequence variation on differential allelic transcription factor occupancy and gene expression
-
COI: 1:CAS:528:DC%2BC38Xms1antLs%3D, PID: 22300769
-
Reddy TE et al (2012) Effects of sequence variation on differential allelic transcription factor occupancy and gene expression. Genome Res 22:860–869. doi:10.1101/gr.131201.111
-
(2012)
Genome Res
, vol.22
, pp. 860-869
-
-
Reddy, T.E.1
-
28
-
-
80051489977
-
AlleleSeq: analysis of allele-specific expression and binding in a network framework
-
PID: 21811232
-
Rozowsky J et al (2011) AlleleSeq: analysis of allele-specific expression and binding in a network framework. Mol Syst Biol 7:522. doi:10.1038/msb.2011.54
-
(2011)
Mol Syst Biol
, vol.7
, pp. 522
-
-
Rozowsky, J.1
-
29
-
-
45149108420
-
Mapping the genetic architecture of gene expression in human liver
-
PID: 18462017
-
Schadt EE et al (2008) Mapping the genetic architecture of gene expression in human liver. PLoS Biol 6:e107
-
(2008)
PLoS Biol
, vol.6
, pp. e107
-
-
Schadt, E.E.1
-
30
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
The 1000 Genomes Project (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491:56–65. doi:10.1038/nature11632
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
1000 Genomes Project, T.1
-
31
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
The ENCODE Project Consortium (2012) An integrated encyclopedia of DNA elements in the human genome. Nature 489:57–74. doi:10.1038/nature11247
-
(2012)
Nature
, vol.489
, pp. 57-74
-
-
-
32
-
-
69449101386
-
Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease
-
Verlaan DJ et al (2009) Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. Am J Hum Genet 85:377–393. doi:10.1016/j.ajhg.2009.08.007
-
(2009)
Am J Hum Genet
, vol.85
, pp. 377-393
-
-
Verlaan, D.J.1
-
33
-
-
75649116449
-
Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing
-
COI: 1:CAS:528:DC%2BD1MXhsFyktrzF, PID: 19822575
-
Wallerman O, Motallebipour M, Enroth S, Patra K, Bysani MS, Komorowski J, Wadelius C (2009) Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing. Nucleic Acids Res 37:7498–7508
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 7498-7508
-
-
Wallerman, O.1
Motallebipour, M.2
Enroth, S.3
Patra, K.4
Bysani, M.S.5
Komorowski, J.6
Wadelius, C.7
-
34
-
-
84940419146
-
Population variation and genetic control of modular chromatin architecture in humans
-
Waszak Sebastian M et al (2015) Population variation and genetic control of modular chromatin architecture in humans. Cell 162:1039–1050. doi:10.1016/j.cell.2015.08.001
-
(2015)
Cell
, vol.162
, pp. 1039-1050
-
-
Waszak Sebastian, M.1
|