-
1
-
-
84885645853
-
Transcriptome and genome sequencing uncovers functional variation in humans
-
Lappalainen T, Sammeth M, Friedländer MR, 't Hoen PAC, Monlong J, et al. (2013) Transcriptome and genome sequencing uncovers functional variation in humans. Nature 501: 506–11 doi:10.1038/nature12531
-
(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
-
2
-
-
79960946869
-
Rare and common regulatory variation in population-scale sequenced human genomes
-
Montgomery SB, Lappalainen T, Gutierrez-Arcelus M, Dermitzakis ET, (2011) Rare and common regulatory variation in population-scale sequenced human genomes. PLoS Genet 7: e1002144 doi:10.1371/journal.pgen.1002144
-
(2011)
PLoS Genet
, vol.7
, pp. e1002144
-
-
Montgomery, S.B.1
Lappalainen, T.2
Gutierrez-Arcelus, M.3
Dermitzakis, E.T.4
-
3
-
-
84860596557
-
Patterns of cis regulatory variation in diverse human populations
-
Stranger BE, Montgomery SB, Dimas AS, Parts L, Stegle O, et al. (2012) Patterns of cis regulatory variation in diverse human populations. PLoS Genet 8: e1002639 doi:10.1371/journal.pgen.1002639
-
(2012)
PLoS Genet
, vol.8
, pp. e1002639
-
-
Stranger, B.E.1
Montgomery, S.B.2
Dimas, A.S.3
Parts, L.4
Stegle, O.5
-
4
-
-
84857886331
-
Estimation of alternative splicing variability in human populations
-
Gonzàlez-Porta M, Calvo M, Sammeth M, Guigó R, (2012) Estimation of alternative splicing variability in human populations. Genome Res 22: 528–538 doi:10.1101/gr.121947.111
-
(2012)
Genome Res
, vol.22
, pp. 528-538
-
-
Gonzàlez-Porta, M.1
Calvo, M.2
Sammeth, M.3
Guigó, R.4
-
5
-
-
27644509150
-
Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa
-
Ramachandran S, Deshpande O, Roseman CC, Rosenberg NA, Feldman MW, et al. (2005) Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa. Proc Natl Acad Sci U S A 102: 15942–15947 doi:10.1073/pnas.0507611102
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 15942-15947
-
-
Ramachandran, S.1
Deshpande, O.2
Roseman, C.C.3
Rosenberg, N.A.4
Feldman, M.W.5
-
6
-
-
33750437374
-
Clines, clusters, and the effect of study design on the inference of human population structure
-
Rosenberg NA, Mahajan S, Ramachandran S, Zhao C, Pritchard JK, et al. (2005) Clines, clusters, and the effect of study design on the inference of human population structure. PLoS Genet 1: e70 doi:10.1371/journal.pgen.0010070
-
(2005)
PLoS Genet
, vol.1
, pp. e70
-
-
Rosenberg, N.A.1
Mahajan, S.2
Ramachandran, S.3
Zhao, C.4
Pritchard, J.K.5
-
7
-
-
79955103752
-
Hunter-gatherer genomic diversity suggests a southern African origin for modern humans
-
Henn BM, Gignoux CR, Jobin M, Granka JM, Macpherson JM, et al. (2011) Hunter-gatherer genomic diversity suggests a southern African origin for modern humans. Proc Natl Acad Sci U S A 108: 5154–5162 doi:10.1073/pnas.1017511108
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 5154-5162
-
-
Henn, B.M.1
Gignoux, C.R.2
Jobin, M.3
Granka, J.M.4
Macpherson, J.M.5
-
8
-
-
39749139577
-
Proportionally more deleterious genetic variation in European than in African populations
-
Lohmueller KE, Indap AR, Schmidt S, Boyko AR, Hernandez RD, et al. (2008) Proportionally more deleterious genetic variation in European than in African populations. Nature 451: 994–997 doi:10.1038/nature06611
-
(2008)
Nature
, vol.451
, pp. 994-997
-
-
Lohmueller, K.E.1
Indap, A.R.2
Schmidt, S.3
Boyko, A.R.4
Hernandez, R.D.5
-
9
-
-
84863116742
-
A systematic survey of loss-of-function variants in human protein-coding genes
-
MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, et al. (2012) A systematic survey of loss-of-function variants in human protein-coding genes. Science 335: 823–828 doi:10.1126/science.1215040
-
(2012)
Science
, vol.335
, pp. 823-828
-
-
MacArthur, D.G.1
Balasubramanian, S.2
Frankish, A.3
Huang, N.4
Morris, J.5
-
10
-
-
43249127214
-
A genome-wide gene expression signature of environmental geography in leukocytes of Moroccan Amazighs
-
Idaghdour Y, Storey JD, Jadallah SJ, Gibson G, (2008) A genome-wide gene expression signature of environmental geography in leukocytes of Moroccan Amazighs. PLoS Genet 4: e1000052 doi:10.1371/journal.pgen.1000052
-
(2008)
PLoS Genet
, vol.4
, pp. e1000052
-
-
Idaghdour, Y.1
Storey, J.D.2
Jadallah, S.J.3
Gibson, G.4
-
11
-
-
34548738566
-
Population genomics of human gene expression
-
Stranger BE, Nica AC, Forrest MS, Dimas A, Bird CP, et al. (2007) Population genomics of human gene expression. Nat Genet 39: 1217–1224 doi:10.1038/ng2142
-
(2007)
Nat Genet
, vol.39
, pp. 1217-1224
-
-
Stranger, B.E.1
Nica, A.C.2
Forrest, M.S.3
Dimas, A.4
Bird, C.P.5
-
12
-
-
77950458649
-
Transcriptome genetics using second generation sequencing in a Caucasian population
-
Montgomery SB, Sammeth M, Gutierrez-Arcelus M, Lach RP, Ingle C, et al. (2010) Transcriptome genetics using second generation sequencing in a Caucasian population. Nature 464: 773–777 doi:10.1038/nature08903
-
(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
-
13
-
-
77950460661
-
Understanding mechanisms underlying human gene expression variation with RNA sequencing
-
Pickrell JK, Marioni JC, Pai AA, Degner JF, Engelhardt BE, et al. (2010) Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature 464: 768–772 doi:10.1038/nature08872
-
(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
-
14
-
-
84876523427
-
The origin, evolution and functional impact of short insertion-deletion variants identified in 179 human genomes
-
Montgomery SB, Goode D, Kvikstad E, Albers CA, Zhang Z, et al. (2013) The origin, evolution and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res 749–761 doi:10.1101/gr.148718.112
-
(2013)
Genome Res
, pp. 749-761
-
-
Montgomery, S.B.1
Goode, D.2
Kvikstad, E.3
Albers, C.A.4
Zhang, Z.5
-
15
-
-
77952367694
-
Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations
-
Nica AC, Montgomery SB, Dimas AS, Stranger BE, Beazley C, et al. (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
, pp. e1000895
-
-
Nica, A.C.1
Montgomery, S.B.2
Dimas, A.S.3
Stranger, B.E.4
Beazley, C.5
-
16
-
-
77951439152
-
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, et al. (2010) Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet 6: e1000888 doi:10.1371/journal.pgen.1000888
-
(2010)
PLoS Genet
, vol.6
, pp. e1000888
-
-
Nicolae, D.L.1
Gamazon, E.2
Zhang, W.3
Duan, S.4
Dolan, M.E.5
-
17
-
-
58849106627
-
Identification of common genetic variants that account for transcript isoform variation between human populations
-
Zhang W, Duan S, Bleibel WK, Wisel SA, Huang RS, et al. (2009) Identification of common genetic variants that account for transcript isoform variation between human populations. Hum Genet 125: 81–93 doi:10.1007/s00439-008-0601-x
-
(2009)
Hum Genet
, vol.125
, pp. 81-93
-
-
Zhang, W.1
Duan, S.2
Bleibel, W.K.3
Wisel, S.A.4
Huang, R.S.5
-
18
-
-
79960914208
-
Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals
-
Ju YS, Kim J-I, Kim S, Hong D, Park H, et al. (2011) Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals. Nat Genet 43: 745–752 doi:10.1038/ng.872
-
(2011)
Nat Genet
, vol.43
, pp. 745-752
-
-
Ju, Y.S.1
Kim, J.-I.2
Kim, S.3
Hong, D.4
Park, H.5
-
19
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
Dunham I, Kundaje A, Aldred SF, Collins PJ, Davis CA, et al. (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
-
-
Dunham, I.1
Kundaje, A.2
Aldred, S.F.3
Collins, P.J.4
Davis, C.A.5
-
20
-
-
78650689920
-
Noisy splicing drives mRNA isoform diversity in human cells
-
Pickrell JK, Pai AA, Gilad Y, Pritchard JK, (2010) Noisy splicing drives mRNA isoform diversity in human cells. PLoS Genet 6: e1001236 doi:10.1371/journal.pgen.1001236
-
(2010)
PLoS Genet
, vol.6
, pp. e1001236
-
-
Pickrell, J.K.1
Pai, A.A.2
Gilad, Y.3
Pritchard, J.K.4
-
21
-
-
0037066430
-
A Human Genome Diversity Cell Line Panel
-
Cann HM, (2002) A Human Genome Diversity Cell Line Panel. Science 296: 261b–262 doi:10.1126/science.296.5566.261b
-
(2002)
Science
, vol.296
, pp. 261b-262
-
-
Cann, H.M.1
-
22
-
-
67651225410
-
Sensitive detection of chromosomal segments of distinct ancestry in admixed populations
-
Price AL, Tandon A, Patterson N, Barnes KC, Rafaels N, et al. (2009) Sensitive detection of chromosomal segments of distinct ancestry in admixed populations. PLoS Genet 5: e1000519 doi:10.1371/journal.pgen.1000519
-
(2009)
PLoS Genet
, vol.5
, pp. e1000519
-
-
Price, A.L.1
Tandon, A.2
Patterson, N.3
Barnes, K.C.4
Rafaels, N.5
-
23
-
-
77952123055
-
Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation
-
Trapnell C, Williams BA, Pertea G, Mortazavi A, Kwan G, et al. (2010) Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation. Nat Biotechnol 28: 511–515 doi:10.1038/nbt.1621
-
(2010)
Nat Biotechnol
, vol.28
, pp. 511-515
-
-
Trapnell, C.1
Williams, B.A.2
Pertea, G.3
Mortazavi, A.4
Kwan, G.5
-
24
-
-
84887433583
-
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories
-
't Hoen PaC, Friedländer MR, Almlöf J, Sammeth M, Pulyakhina I, et al. (2013) Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories. Nat Biotechnol 31: 1015–1022 doi:10.1038/nbt.2702
-
(2013)
Nat Biotechnol
, vol.31
, pp. 1015-1022
-
-
t Hoen, P.C.1
Friedländer, M.R.2
Almlöf, J.3
Sammeth, M.4
Pulyakhina, I.5
-
25
-
-
77955883388
-
Biases in Illumina transcriptome sequencing caused by random hexamer priming
-
Hansen KD, Brenner SE, Dudoit S, (2010) Biases in Illumina transcriptome sequencing caused by random hexamer priming. Nucleic Acids Res 38: e131 doi:10.1093/nar/gkq224
-
(2010)
Nucleic Acids Res
, vol.38
, pp. e131
-
-
Hansen, K.D.1
Brenner, S.E.2
Dudoit, S.3
-
26
-
-
77951940273
-
Modeling non-uniformity in short-read rates in RNA-Seq data
-
Li J, Jiang H, Wong WH, (2010) Modeling non-uniformity in short-read rates in RNA-Seq data. Genome Biol 11: R50 doi:10.1186/gb-2010-11-5-r50
-
(2010)
Genome Biol
, vol.11
, pp. R50
-
-
Li, J.1
Jiang, H.2
Wong, W.H.3
-
27
-
-
84858068675
-
Removing technical variability in RNA-seq data using conditional quantile normalization
-
Hansen KD, Irizarry RA, Wu Z, (2012) Removing technical variability in RNA-seq data using conditional quantile normalization. Biostatistics 13: 204–216 doi:10.1093/biostatistics/kxr054
-
(2012)
Biostatistics
, vol.13
, pp. 204-216
-
-
Hansen, K.D.1
Irizarry, R.A.2
Wu, Z.3
-
28
-
-
39749197456
-
Genotype, haplotype and copy-number variation in worldwide human populations
-
Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, et al. (2008) Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451: 998–1003 doi:10.1038/nature06742
-
(2008)
Nature
, vol.451
, pp. 998-1003
-
-
Jakobsson, M.1
Scholz, S.W.2
Scheet, P.3
Gibbs, J.R.4
VanLiere, J.M.5
-
29
-
-
39749181521
-
Worldwide human relationships inferred from genome-wide patterns of variation
-
Li JZ, Absher DM, Tang H, Southwick AM, Casto AM, et al. (2008) Worldwide human relationships inferred from genome-wide patterns of variation. Science 319: 1100–1104 doi:10.1126/science.1153717
-
(2008)
Science
, vol.319
, pp. 1100-1104
-
-
Li, J.Z.1
Absher, D.M.2
Tang, H.3
Southwick, A.M.4
Casto, A.M.5
-
30
-
-
84858041341
-
Differential expression analysis of multifactor RNA-Seq experiments with respect to biological variation
-
McCarthy DJ, Chen Y, Smyth GK, (2012) Differential expression analysis of multifactor RNA-Seq experiments with respect to biological variation. Nucleic Acids Res 40: 4288–4297 doi:10.1093/nar/gks042
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 4288-4297
-
-
McCarthy, D.J.1
Chen, Y.2
Smyth, G.K.3
-
31
-
-
84880944577
-
Modeling host genetic regulation of influenza pathogenesis in the collaborative cross
-
Ferris MT, Aylor DL, Bottomly D, Whitmore AC, Aicher LD, et al. (2013) Modeling host genetic regulation of influenza pathogenesis in the collaborative cross. PLoS Pathog 9: e1003196 doi:10.1371/journal.ppat.1003196
-
(2013)
PLoS Pathog
, vol.9
, pp. e1003196
-
-
Ferris, M.T.1
Aylor, D.L.2
Bottomly, D.3
Whitmore, A.C.4
Aicher, L.D.5
-
32
-
-
84859235751
-
Admixture mapping identifies a locus on 6q25 associated with breast cancer risk in US Latinas
-
Fejerman L, Chen GK, Eng C, Huntsman S, Hu D, et al. (2012) Admixture mapping identifies a locus on 6q25 associated with breast cancer risk in US Latinas. Hum Mol Genet 21: 1907–1917 doi:10.1093/hmg/ddr617
-
(2012)
Hum Mol Genet
, vol.21
, pp. 1907-1917
-
-
Fejerman, L.1
Chen, G.K.2
Eng, C.3
Huntsman, S.4
Hu, D.5
-
33
-
-
84875200699
-
Early regulation of viral infection reduces inflammation and rescues mx-positive mice from lethal avian influenza infection
-
Song M-S, Cho Y-H, Park S-J, Pascua PNQ, Baek YH, et al. (2013) Early regulation of viral infection reduces inflammation and rescues mx-positive mice from lethal avian influenza infection. Am J Pathol 182: 1308–1321 doi:10.1016/j.ajpath.2012.12.022
-
(2013)
Am J Pathol
, vol.182
, pp. 1308-1321
-
-
Song, M.-S.1
Cho, Y.-H.2
Park, S.-J.3
Pascua, P.N.Q.4
Baek, Y.H.5
-
34
-
-
80052851918
-
Host genetic risk factors for West Nile virus infection and disease progression
-
Bigham AW, Buckingham KJ, Husain S, Emond MJ, Bofferding KM, et al. (2011) Host genetic risk factors for West Nile virus infection and disease progression. PLoS One 6: e24745 doi:10.1371/journal.pone.0024745
-
(2011)
PLoS One
, vol.6
, pp. e24745
-
-
Bigham, A.W.1
Buckingham, K.J.2
Husain, S.3
Emond, M.J.4
Bofferding, K.M.5
-
35
-
-
27344435774
-
Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles
-
Subramanian A, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, et al. (2005) Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A 102: 15545–15550 doi:10.1073/pnas.0506580102
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 15545-15550
-
-
Subramanian, A.1
Tamayo, P.2
Mootha, V.K.3
Mukherjee, S.4
Ebert, B.L.5
-
36
-
-
84871410405
-
The evolutionary landscape of alternative splicing in vertebrate species
-
Barbosa-Morais NL, Irimia M, Pan Q, Xiong HY, Gueroussov S, et al. (2012) The evolutionary landscape of alternative splicing in vertebrate species. Science 338: 1587–1593 doi:10.1126/science.1230612
-
(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
-
37
-
-
84871436996
-
Evolutionary dynamics of gene and isoform regulation in Mammalian tissues
-
Merkin J, Russell C, Chen P, Burge CB, (2012) Evolutionary dynamics of gene and isoform regulation in Mammalian tissues. Science 338: 1593–1599 doi:10.1126/science.1228186
-
(2012)
Science
, vol.338
, pp. 1593-1599
-
-
Merkin, J.1
Russell, C.2
Chen, P.3
Burge, C.B.4
-
38
-
-
33847181678
-
-
Storey JD, Madeoy J, Strout JL, Wurfel M, Ronald J, et al. (2007) Gene-Expression Variation Within and Among Human Populations. 80: 502–509 doi:10.1086/512017
-
(2007)
Gene-Expression Variation Within and Among Human Populations
, vol.80
, pp. 502-509
-
-
Storey, J.D.1
Madeoy, J.2
Strout, J.L.3
Wurfel, M.4
Ronald, J.5
-
39
-
-
84856094328
-
Evolutionary dynamics of human autoimmune disease genes and malfunctioned immunological genes
-
Podder S, Ghosh TC, (2012) Evolutionary dynamics of human autoimmune disease genes and malfunctioned immunological genes. BMC Evol Biol 12: 10 doi:10.1186/1471-2148-12-10
-
(2012)
BMC Evol Biol
, vol.12
, pp. 10
-
-
Podder, S.1
Ghosh, T.C.2
-
40
-
-
66049157487
-
Signals of recent positive selection in a worldwide sample of human populations
-
Pickrell JK, Coop G, Novembre J, Kudaravalli S, Li JZ, et al. (2009) Signals of recent positive selection in a worldwide sample of human populations. Genome Res 19: 826–837 doi:10.1101/gr.087577.108
-
(2009)
Genome Res
, vol.19
, pp. 826-837
-
-
Pickrell, J.K.1
Coop, G.2
Novembre, J.3
Kudaravalli, S.4
Li, J.Z.5
-
41
-
-
70350653808
-
Transcriptome analysis by strand-specific sequencing of complementary DNA
-
Parkhomchuk D, Borodina T, Amstislavskiy V, Banaru M, Hallen L, et al. (2009) Transcriptome analysis by strand-specific sequencing of complementary DNA. Nucleic Acids Res 37: e123 doi:10.1093/nar/gkp596
-
(2009)
Nucleic Acids Res
, vol.37
, pp. e123
-
-
Parkhomchuk, D.1
Borodina, T.2
Amstislavskiy, V.3
Banaru, M.4
Hallen, L.5
-
42
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo Ma, Banks E, Poplin R, Garimella KV, Maguire JR, 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.1
Banks, E.2
Poplin, R.3
Garimella, K.V.4
Maguire, J.R.5
-
43
-
-
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 doi:10.1093/bioinformatics/btp324
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
44
-
-
77956295988
-
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, et al. (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20: 1297–1303 doi:10.1101/gr.107524.110
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
-
45
-
-
0021566877
-
Estimating F-Statistics for the Analysis of Population Structure
-
Weir BS, Cockerham CC, (1984) Estimating F-Statistics for the Analysis of Population Structure. Evolution (N Y) 38: 1358–1370.
-
(1984)
Evolution (N Y)
, vol.38
, pp. 1358-1370
-
-
Weir, B.S.1
Cockerham, C.C.2
-
46
-
-
65449136284
-
TopHat: discovering splice junctions with RNA-Seq
-
Trapnell C, Pachter L, Salzberg SL, (2009) TopHat: discovering splice junctions with RNA-Seq. Bioinformatics 25: 1105–1111 doi:10.1093/bioinformatics/btp120
-
(2009)
Bioinformatics
, vol.25
, pp. 1105-1111
-
-
Trapnell, C.1
Pachter, L.2
Salzberg, S.L.3
-
47
-
-
78651237647
-
Identifying a high fraction of the human genome to be under selective constraint using GERP++
-
Davydov EV, Goode DL, Sirota M, Cooper GM, Sidow A, et al. (2010) Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput Biol 6: e1001025 doi:10.1371/journal.pcbi.1001025
-
(2010)
PLoS Comput Biol
, vol.6
, pp. e1001025
-
-
Davydov, E.V.1
Goode, D.L.2
Sirota, M.3
Cooper, G.M.4
Sidow, A.5
-
48
-
-
17444412589
-
Detecting amino acid sites under positive selection and purifying selection
-
Massingham T, Goldman N, (2005) Detecting amino acid sites under positive selection and purifying selection. Genetics 169: 1753–1762 doi:10.1534/genetics.104.032144
-
(2005)
Genetics
, vol.169
, pp. 1753-1762
-
-
Massingham, T.1
Goldman, N.2
-
49
-
-
84875391572
-
Ensembl 2013
-
Flicek P, Ahmed I, Amode MR, Barrell D, Beal K, et al. (2013) Ensembl 2013. Nucleic Acids Res 41: D48–55 doi:10.1093/nar/gks1236
-
(2013)
Nucleic Acids Res
, vol.41
, pp. D48-55
-
-
Flicek, P.1
Ahmed, I.2
Amode, M.R.3
Barrell, D.4
Beal, K.5
-
50
-
-
84875404794
-
The UCSC Genome Browser database: extensions and updates 2013
-
Meyer LR, Zweig AS, Hinrichs AS, Karolchik D, Kuhn RM, et al. (2013) The UCSC Genome Browser database: extensions and updates 2013. Nucleic Acids Res 41: D64–9 doi:10.1093/nar/gks1048
-
(2013)
Nucleic Acids Res
, vol.41
, pp. D64-9
-
-
Meyer, L.R.1
Zweig, A.S.2
Hinrichs, A.S.3
Karolchik, D.4
Kuhn, R.M.5
-
51
-
-
66349086264
-
Identifying novel constrained elements by exploiting biased substitution patterns
-
Garber M, Guttman M, Clamp M, Zody MC, Friedman N, et al. (2009) Identifying novel constrained elements by exploiting biased substitution patterns. Bioinformatics 25: i54–62 doi:10.1093/bioinformatics/btp190
-
(2009)
Bioinformatics
, vol.25
, pp. i54-62
-
-
Garber, M.1
Guttman, M.2
Clamp, M.3
Zody, M.C.4
Friedman, N.5
-
52
-
-
79960763462
-
dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions
-
Liu X, Jian X, Boerwinkle E, (2011) dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat 32: 894–899 doi:10.1002/humu.21517
-
(2011)
Hum Mutat
, vol.32
, pp. 894-899
-
-
Liu, X.1
Jian, X.2
Boerwinkle, E.3
|