-
1
-
-
33750353461
-
Predicting the effects of amino acid substitutions on protein function
-
Ng PC, Henikoff S (2006) Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet 7: 61-80.
-
(2006)
Annu Rev Genomics Hum Genet
, vol.7
, pp. 61-80
-
-
Ng, P.C.1
Henikoff, S.2
-
2
-
-
0028014337
-
The molecular basis of genetic dominance
-
Wilkie AOM (1994) The molecular basis of genetic dominance. J Med Genet 31: 89-98.
-
(1994)
J Med Genet
, vol.31
, pp. 89-98
-
-
Wilkie, A.O.M.1
-
3
-
-
33645462359
-
Spread of an inactive form of caspase-12 in humans is due to recent positive selection
-
Xue Y, Daly A, Yngvadottir B, Liu M, Coop G, et al. (2006) Spread of an inactive form of caspase-12 in humans is due to recent positive selection. Am J Hum Genet 78: 659-670.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 659-670
-
-
Xue, Y.1
Daly, A.2
Yngvadottir, B.3
Liu, M.4
Coop, G.5
-
4
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, et al. (2009) Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461: 272-276.
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
Flygare, S.D.4
Bigham, A.W.5
-
5
-
-
50849127837
-
Genetic variation in an individual human exome
-
doi:10.1371/journal.pgen.1000160
-
Ng PC, Levy S, Huang J, Stockwell TB, Walenz BP, et al. (2008) Genetic variation in an individual human exome. PLoS Genet 4: e1000160. doi:10.1371/journal.pgen.1000160.
-
(2008)
PLoS Genet
, vol.4
-
-
Ng, P.C.1
Levy, S.2
Huang, J.3
Stockwell, T.B.4
Walenz, B.P.5
-
6
-
-
77950460950
-
Origins and functional impact of copy number variation in the human genome
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, et al. (2009) Origins and functional impact of copy number variation in the human genome. Nature.
-
(2009)
Nature
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
-
7
-
-
34347361618
-
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
-
Lee C, Iafrate AJ, Brothman AR (2007) Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet 39: S48-54.
-
(2007)
Nat Genet
, vol.39
-
-
Lee, C.1
Iafrate, A.J.2
Brothman, A.R.3
-
8
-
-
54549102143
-
Identification of human haploinsufficient genes and their genomic proximity to segmental duplications
-
Dang V, Kassahn K, Marcos A, Ragan M (2008) Identification of human haploinsufficient genes and their genomic proximity to segmental duplications. Eur J Hum Genet 16: 1350-1357.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 1350-1357
-
-
Dang, V.1
Kassahn, K.2
Marcos, A.3
Ragan, M.4
-
9
-
-
0036177862
-
Transcription factor haploinsufficiency: When half a loaf is not enough
-
Seidman JG, Seidman C (2002) Transcription factor haploinsufficiency: when half a loaf is not enough. J Clin Invest 109: 451-455.
-
(2002)
J Clin Invest
, vol.109
, pp. 451-455
-
-
Seidman, J.G.1
Seidman, C.2
-
10
-
-
45449101500
-
Natural Selection on Genes that Underlie Human Disease Susceptibility
-
Blekhman R, Man O, Herrmann L, Boyko AR, Indap A, et al. (2008) Natural Selection on Genes that Underlie Human Disease Susceptibility. Curr Biol 18: 883-889.
-
(2008)
Curr Biol
, vol.18
, pp. 883-889
-
-
Blekhman, R.1
Man, O.2
Herrmann, L.3
Boyko, A.R.4
Indap, A.5
-
11
-
-
2942744316
-
A common framework for understanding the origin of genetic dominance and evolutionary fates of gene duplications
-
Kondrashov FA, Koonin EV (2004) A common framework for understanding the origin of genetic dominance and evolutionary fates of gene duplications. Trends Genet 20: 287-290.
-
(2004)
Trends Genet
, vol.20
, pp. 287-290
-
-
Kondrashov, F.A.1
Koonin, E.V.2
-
12
-
-
33645124027
-
Bias of selection on human copynumber variants
-
doi:10.1371/journal.pgen.0020020
-
Nguyen D-Q, Webber C, Ponting CP (2006) Bias of selection on human copynumber variants. PLoS Genet 2: e20. doi:10.1371/journal.pgen.0020020.
-
(2006)
PLoS Genet
, vol.2
-
-
Nguyen, D.-Q.1
Webber, C.2
Ponting, C.P.3
-
13
-
-
18844407538
-
Mechanisms of haploinsufficiency revealed by genome-wide profiling in yeast
-
Deutschbauer AM, Jaramillo DF, Proctor M, Kumm J, Hillenmeyer ME, et al. (2005) Mechanisms of haploinsufficiency revealed by genome-wide profiling in yeast. Genetics 169: 1915-1925.
-
(2005)
Genetics
, vol.169
, pp. 1915-1925
-
-
Deutschbauer, A.M.1
Jaramillo, D.F.2
Proctor, M.3
Kumm, J.4
Hillenmeyer, M.E.5
-
14
-
-
39149123120
-
Exploring the molecular etiology of dominant-negative mutations
-
Veitia RA (2007) Exploring the molecular etiology of dominant-negative mutations. Plant Cell 19: 3843-3851.
-
(2007)
Plant Cell
, vol.19
, pp. 3843-3851
-
-
Veitia, R.A.1
-
15
-
-
0035998736
-
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
-
Hamosh A, Scott AF, Amberger J, Bocchini C, Valle D, et al. (2002) Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 30: 52-55.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 52-55
-
-
Hamosh, A.1
Scott, A.F.2
Amberger, J.3
Bocchini, C.4
Valle, D.5
-
16
-
-
58149197592
-
The Mouse Genome Database genotypes: Phenotypes
-
Blake JA, Bult CJ, Eppig JT, Kadin JA, Richardson JE (2009) The Mouse Genome Database genotypes: phenotypes. Nucleic Acids Res 37: D712-719.
-
(2009)
Nucleic Acids Res
, vol.37
-
-
Blake, J.A.1
Bult, C.J.2
Eppig, J.T.3
Kadin, J.A.4
Richardson, J.E.5
-
17
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
International Schizophrenia Consortium
-
International Schizophrenia Consortium (2008) Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455: 237-241.
-
(2008)
Nature
, vol.455
, pp. 237-241
-
-
-
18
-
-
64149099583
-
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
-
Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, et al. (2009) DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet 84: 524-533.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 524-533
-
-
Firth, H.V.1
Richards, S.M.2
Bevan, A.P.3
Clayton, S.4
Corpas, M.5
-
19
-
-
44949129000
-
Assessing the evolutionary impact of amino acid mutations in the human genome
-
doi:10.1371/journal.pgen.1000083
-
Boyko AR, Williamson SH, Indap AR, Degenhardt JD, Hernandez RD, et al. (2008) Assessing the evolutionary impact of amino acid mutations in the human genome. PLoS Genet 4: e1000083. doi:10.1371/journal.pgen.1000083.
-
(2008)
PLoS Genet
, vol.4
-
-
Boyko, A.R.1
Williamson, S.H.2
Indap, A.R.3
Degenhardt, J.D.4
Hernandez, R.D.5
-
20
-
-
27144539145
-
Natural selection on protein-coding genes in the human genome
-
Bustamante CD, Fledel-Alon A, Williamson S, Nielsen R, Hubisz MT, et al. (2005) Natural selection on protein-coding genes in the human genome. Nature 437: 1153-1157.
-
(2005)
Nature
, vol.437
, pp. 1153-1157
-
-
Bustamante, C.D.1
Fledel-Alon, A.2
Williamson, S.3
Nielsen, R.4
Hubisz, M.T.5
-
21
-
-
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.
-
(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
-
22
-
-
33748530614
-
Imputation of missing values is superior to complete case analysis and the missing-indicator method in multivariable diagnostic research: A clinical example
-
van der Heijden GJ, Donders AR, Stijnen T, Moons KG (2006) Imputation of missing values is superior to complete case analysis and the missing-indicator method in multivariable diagnostic research: a clinical example. J Clin Epidemiol 59: 1102-1109.
-
(2006)
J Clin Epidemiol
, vol.59
, pp. 1102-1109
-
-
van der Heijden, G.J.1
Donders, A.R.2
Stijnen, T.3
Moons, K.G.4
-
23
-
-
42649084334
-
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
-
Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, et al. (2008) Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 40: 592-599.
-
(2008)
Nat Genet
, vol.40
, pp. 592-599
-
-
Ji, W.1
Foo, J.N.2
O'Roak, B.J.3
Zhao, H.4
Larson, M.G.5
-
24
-
-
77649122250
-
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
-
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42: 203-209.
-
Nat Genet
, vol.42
, pp. 203-209
-
-
Girirajan, S.1
Rosenfeld, J.A.2
Cooper, G.M.3
Antonacci, F.4
Siswara, P.5
-
25
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
Ng PC, Henikoff S (2001) Predicting deleterious amino acid substitutions. Genome Res 11: 863-874.
-
(2001)
Genome Res
, vol.11
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
26
-
-
0035869223
-
Prediction of deleterious human alleles
-
Sunyaev S, Ramensky V, Koch I, Lathe W, 3rd, Kondrashov AS, et al. (2001) Prediction of deleterious human alleles. Hum Mol Genet 10: 591-597.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe III, W.4
Kondrashov, A.S.5
-
27
-
-
61449168010
-
A groupwise association test for rare mutations using a weighted sum statistic
-
doi:10.1371/journal. pgen.1000384
-
Madsen BE, Browning SR (2009) A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet 5: e1000384. doi:10.1371/journal. pgen.1000384.
-
(2009)
PLoS Genet
, vol.5
-
-
Madsen, B.E.1
Browning, S.R.2
-
28
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
McCarroll S, Kuruvilla F, Korn J, Cawley S, Nemesh J, et al. (2008) Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 40: 1166-1174.
-
(2008)
Nat Genet
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.1
Kuruvilla, F.2
Korn, J.3
Cawley, S.4
Nemesh, J.5
-
29
-
-
52949085789
-
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
-
Korn J, Kuruvilla F, McCarroll S, Wysoker A, Nemesh J, et al. (2008) Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 40: 1253-1260.
-
(2008)
Nat Genet
, vol.40
, pp. 1253-1260
-
-
Korn, J.1
Kuruvilla, F.2
McCarroll, S.3
Wysoker, A.4
Nemesh, J.5
-
30
-
-
58149185123
-
Ensembl 2009
-
Hubbard TJ, Aken BL, Ayling S, Ballester B, Beal K, et al. (2009) Ensembl 2009. Nucleic Acids Res 37: D690-697.
-
(2009)
Nucleic Acids Res
, vol.37
-
-
Hubbard, T.J.1
Aken, B.L.2
Ayling, S.3
Ballester, B.4
Beal, K.5
-
31
-
-
22244452677
-
Distribution and intensity of constraint in mammalian genomic sequence
-
Cooper GM, Stone EA, Asimenos G, Green ED, Batzoglou S, et al. (2005) Distribution and intensity of constraint in mammalian genomic sequence. Genome Res 15: 901-913.
-
(2005)
Genome Res
, vol.15
, pp. 901-913
-
-
Cooper, G.M.1
Stone, E.A.2
Asimenos, G.3
Green, E.D.4
Batzoglou, S.5
-
32
-
-
11144358198
-
A gene atlas of the mouse and human protein-encoding transcriptomes
-
Su AI, Wiltshire T, Batalov S, Lapp H, Ching KA, et al. (2004) A gene atlas of the mouse and human protein-encoding transcriptomes. Proc Natl Acad Sci U S A 101: 6062-6067.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 6062-6067
-
-
Su, A.I.1
Wiltshire, T.2
Batalov, S.3
Lapp, H.4
Ching, K.A.5
-
33
-
-
34147113900
-
A metaanalysis of human embryonic stem cells transcriptome integrated into a webbased expression atlas
-
Assou S, Le Carrour T, Tondeur S, Strom S, Gabelle A, et al. (2007) A metaanalysis of human embryonic stem cells transcriptome integrated into a webbased expression atlas. Stem Cells 25: 961-973.
-
(2007)
Stem Cells
, vol.25
, pp. 961-973
-
-
Assou, S.1
le Carrour, T.2
Tondeur, S.3
Strom, S.4
Gabelle, A.5
-
34
-
-
33846119587
-
The mouse Gene Expression Database (GXD): 2007 update
-
Smith CM, Finger JH, Hayamizu TF, McCright IJ, Eppig JT, et al. (2007) The mouse Gene Expression Database (GXD): 2007 update. Nucleic Acids Res 35: D618-623.
-
(2007)
Nucleic Acids Res
, vol.35
-
-
Smith, C.M.1
Finger, J.H.2
Hayamizu, T.F.3
McCright, I.J.4
Eppig, J.T.5
-
35
-
-
18744376914
-
Online predicted human interaction database
-
Brown KR, Jurisica I (2005) Online predicted human interaction database. Bioinformatics 21: 2076-2082.
-
(2005)
Bioinformatics
, vol.21
, pp. 2076-2082
-
-
Brown, K.R.1
Jurisica, I.2
-
36
-
-
33846073818
-
MINT: The Molecular INTeraction database
-
Chatr-aryamontri A, Ceol A, Palazzi LM, Nardelli G, Schneider MV, et al. (2007) MINT: the Molecular INTeraction database. Nucleic Acids Res 35: D572-574.
-
(2007)
Nucleic Acids Res
, vol.35
-
-
Chatr-aryamontri, A.1
Ceol, A.2
Palazzi, L.M.3
Nardelli, G.4
Schneider, M.V.5
-
37
-
-
58149193222
-
Human Protein Reference Database-2009 update
-
Keshava Prasad TS, Goel R, Kandasamy K, Keerthikumar S, Kumar S, et al. (2009) Human Protein Reference Database-2009 update. Nucleic Acids Res 37: D767-772.
-
(2009)
Nucleic Acids Res
, vol.37
-
-
Keshava Prasad, T.S.1
Goel, R.2
Kandasamy, K.3
Keerthikumar, S.4
Kumar, S.5
-
38
-
-
27144530248
-
Towards a proteome-scale map of the human protein-protein interaction network
-
Rual J-F, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, et al. (2005) Towards a proteome-scale map of the human protein-protein interaction network. Nature 437: 1173-1178.
-
(2005)
Nature
, vol.437
, pp. 1173-1178
-
-
Rual, J.-F.1
Venkatesan, K.2
Hao, T.3
Hirozane-Kishikawa, T.4
Dricot, A.5
-
39
-
-
34250191844
-
Reactome: A knowledge base of biologic pathways and processes
-
Vastrik I, D'Eustachio P, Schmidt E, Joshi-Tope G, Gopinath G, et al. (2007) Reactome: a knowledge base of biologic pathways and processes. Genome Biol 8: R39.
-
(2007)
Genome Biol
, vol.8
-
-
Vastrik, I.1
D'Eustachio, P.2
Schmidt, E.3
Joshi-Tope, G.4
Gopinath, G.5
-
40
-
-
41549138299
-
An improved, bias-reduced probabilistic functional gene network of baker's yeast, Saccharomyces cerevisiae
-
doi:10.1371/journal.pone.0000988
-
Lee I, Li Z, Marcotte EM (2007) An improved, bias-reduced probabilistic functional gene network of baker's yeast, Saccharomyces cerevisiae. PLoS ONE 2: e988. doi:10.1371/journal.pone.0000988.
-
(2007)
PLoS ONE
, vol.2
-
-
Lee, I.1
Li, Z.2
Marcotte, E.M.3
-
41
-
-
38649138295
-
A single gene network accurately predicts phenotypic effects of gene perturbation in Caenorhabditis elegans
-
Lee I, Lehner B, Crombie C, Wong W, Fraser AG, et al. (2008) A single gene network accurately predicts phenotypic effects of gene perturbation in Caenorhabditis elegans. Nat Genet 40: 181-188.
-
(2008)
Nat Genet
, vol.40
, pp. 181-188
-
-
Lee, I.1
Lehner, B.2
Crombie, C.3
Wong, W.4
Fraser, A.G.5
-
42
-
-
61849113253
-
Graph clustering via a discrete uncoupling process
-
van Dongen S (2008) Graph clustering via a discrete uncoupling process. SIAM J Matrix Anal & Appl 30: 121-141.
-
(2008)
SIAM J Matrix Anal & Appl
, vol.30
, pp. 121-141
-
-
van Dongen, S.1
-
43
-
-
31444451841
-
COSMIC 2005
-
Forbes S, Clements J, Dawson E, Bamford S, Webb T, et al. (2006) COSMIC 2005. Br J Cancer 94: 318-322.
-
(2006)
Br J Cancer
, vol.94
, pp. 318-322
-
-
Forbes, S.1
Clements, J.2
Dawson, E.3
Bamford, S.4
Webb, T.5
-
44
-
-
33646023117
-
An introduction to ROC analysis
-
Fawcett T (2006) An introduction to ROC analysis. Pattern Recognition Letters 27: 861-874.
-
(2006)
Pattern Recognition Letters
, vol.27
, pp. 861-874
-
-
Fawcett, T.1
-
45
-
-
0033931867
-
Assessing the accuracy of prediction algorithms for classification: An overview
-
Baldi P, Brunak S, Chauvin Y, Andersen CA, Nielsen H (2000) Assessing the accuracy of prediction algorithms for classification: an overview. Bioinformatics 16: 412-424.
-
(2000)
Bioinformatics
, vol.16
, pp. 412-424
-
-
Baldi, P.1
Brunak, S.2
Chauvin, Y.3
Andersen, C.A.4
Nielsen, H.5
|