-
1
-
-
0035869223
-
Prediction of deleterious human alleles
-
Sunyaev S., Ramensky V., Koch I., Lathe W., Kondrashov A.S., Bork P. Prediction of deleterious human alleles. Human Mol Genet 2001, 10:591-597.
-
(2001)
Human Mol Genet
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe, W.4
Kondrashov, A.S.5
Bork, P.6
-
2
-
-
0036713510
-
Human non-synonymous SNPs: server and survey
-
Ramensky V., Bork P., Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002, 30:3894-3900.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 3894-3900
-
-
Ramensky, V.1
Bork, P.2
Sunyaev, S.3
-
3
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
Ng P.C., Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001, 11:863-874.
-
(2001)
Genome Res
, vol.11
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
4
-
-
0043122919
-
SIFT: predicting amino acid changes that affect protein function
-
Ng P.C., Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003, 31:3812-3814.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
5
-
-
22244437614
-
Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity
-
Stone E.A., Sidow A. Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res 2005, 15:978-986.
-
(2005)
Genome Res
, vol.15
, pp. 978-986
-
-
Stone, E.A.1
Sidow, A.2
-
6
-
-
33644537810
-
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
-
Tavtigian S.V., Deffenbaugh A.M., Yin L., Judkins T., Scholl T., Samollow P.B., de Silva D., Zharkikh A., Thomas A. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 2006, 43:295-305.
-
(2006)
J Med Genet
, vol.43
, pp. 295-305
-
-
Tavtigian, S.V.1
Deffenbaugh, A.M.2
Yin, L.3
Judkins, T.4
Scholl, T.5
Samollow, P.B.6
de Silva, D.7
Zharkikh, A.8
Thomas, A.9
-
7
-
-
33644993216
-
Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods
-
Mathe E., Olivier M., Kato S., Ishioka C., Hainaut P., Tavtigian S.V. Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res 2006, 34:1317-1325.
-
(2006)
Nucleic Acids Res
, vol.34
, pp. 1317-1325
-
-
Mathe, E.1
Olivier, M.2
Kato, S.3
Ishioka, C.4
Hainaut, P.5
Tavtigian, S.V.6
-
8
-
-
25144496606
-
PMUT: a web-based tool for the annotation of pathological mutations on proteins
-
Ferrer-Costa C., Gelpí J.L., Zamakola L., Parraga I., de la Cruz X., Orozco M. PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 2005, 21:3176-3178.
-
(2005)
Bioinformatics
, vol.21
, pp. 3176-3178
-
-
Ferrer-Costa, C.1
Gelpí, J.L.2
Zamakola, L.3
Parraga, I.4
de la Cruz, X.5
Orozco, M.6
-
9
-
-
69749122314
-
Identification of deleterious mutations within three human genomes
-
Chun S., Fay J.C. Identification of deleterious mutations within three human genomes. Genome Res 2009, 19:1553-1561.
-
(2009)
Genome Res
, vol.19
, pp. 1553-1561
-
-
Chun, S.1
Fay, J.C.2
-
10
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei I., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., Kondrashov A.S., Sunyaev S.R. A method and server for predicting damaging missense mutations. Nat Methods 2010, 7:248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
11
-
-
34547100092
-
SNAP: predict effect of non-synonymous polymorphisms on function
-
Bromberg Y., Rost B. SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res 2007, 35:3823-3835.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 3823-3835
-
-
Bromberg, Y.1
Rost, B.2
-
13
-
-
9444269272
-
Compensated deleterious mutations in insect genomes
-
Kulathinal R.J., Bettencourt B.R., Hartl D.L. Compensated deleterious mutations in insect genomes. Science (New York, NY) 2004, 306:1553-1554.
-
(2004)
Science (New York, NY)
, vol.306
, pp. 1553-1554
-
-
Kulathinal, R.J.1
Bettencourt, B.R.2
Hartl, D.L.3
-
14
-
-
34447637417
-
Mouse duplicate genes are as essential as singletons
-
Liao B.Y., Zhang J. Mouse duplicate genes are as essential as singletons. Trend Genet 2007, 23:378-381.
-
(2007)
Trend Genet
, vol.23
, pp. 378-381
-
-
Liao, B.Y.1
Zhang, J.2
-
15
-
-
54349091030
-
Protein co-evolution, co-adaptation and interactions
-
Pazos F., Valencia A. Protein co-evolution, co-adaptation and interactions. EMBO J 2008, 27:2648-2655.
-
(2008)
EMBO J
, vol.27
, pp. 2648-2655
-
-
Pazos, F.1
Valencia, A.2
-
16
-
-
66149185556
-
Compensatory mutations are repeatable and clustered within proteins
-
Davis B.H., Poon A.F., Whitlock M.C. Compensatory mutations are repeatable and clustered within proteins. Proc Biol Sci Roy Soc 2009, 276:1823-1827.
-
(2009)
Proc Biol Sci Roy Soc
, vol.276
, pp. 1823-1827
-
-
Davis, B.H.1
Poon, A.F.2
Whitlock, M.C.3
-
17
-
-
77649097195
-
Structural and functional roles of coevolved sites in proteins
-
Chakrabarti S., Panchenko A.R. Structural and functional roles of coevolved sites in proteins. PloS one 2010, 5:e8591.
-
(2010)
PloS one
, vol.5
-
-
Chakrabarti, S.1
Panchenko, A.R.2
-
19
-
-
0035065485
-
SNPs, protein structure, and disease
-
Wang Z., Moult J. SNPs, protein structure, and disease. Hum Mutat 2001, 17:263-270.
-
(2001)
Hum Mutat
, vol.17
, pp. 263-270
-
-
Wang, Z.1
Moult, J.2
-
20
-
-
25144523127
-
Loss of protein structure stability as a major causative factor in monogenic disease
-
Yue P., Li Z., Moult J. Loss of protein structure stability as a major causative factor in monogenic disease. J Mol Biol 2005, 353:459-473.
-
(2005)
J Mol Biol
, vol.353
, pp. 459-473
-
-
Yue, P.1
Li, Z.2
Moult, J.3
-
21
-
-
70350668615
-
A survey of proteins encoded by non-synonymous single nucleotide polymorphisms reveals a significant fraction with altered stability and activity
-
Allali-Hassani A., Wasney G.A., Chau I., Hong B.S., Senisterra G., Loppnau P., Shi Z., Moult J., Edwards A.M., Arrowsmith C.H., et al. A survey of proteins encoded by non-synonymous single nucleotide polymorphisms reveals a significant fraction with altered stability and activity. Biochem J 2009, 424:15-26.
-
(2009)
Biochem J
, vol.424
, pp. 15-26
-
-
Allali-Hassani, A.1
Wasney, G.A.2
Chau, I.3
Hong, B.S.4
Senisterra, G.5
Loppnau, P.6
Shi, Z.7
Moult, J.8
Edwards, A.M.9
Arrowsmith, C.H.10
-
22
-
-
0036291145
-
Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations
-
Guerois R., Nielsen J.E., Serrano L. Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations. J Mol Biol 2002, 320:369-387.
-
(2002)
J Mol Biol
, vol.320
, pp. 369-387
-
-
Guerois, R.1
Nielsen, J.E.2
Serrano, L.3
-
23
-
-
70349847872
-
Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0
-
Dehouck Y., Grosfils A., Folch B., Gilis D., Bogaerts P., Rooman M. Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0. Bioinformatics 2009, 25:2537-2543.
-
(2009)
Bioinformatics
, vol.25
, pp. 2537-2543
-
-
Dehouck, Y.1
Grosfils, A.2
Folch, B.3
Gilis, D.4
Bogaerts, P.5
Rooman, M.6
-
24
-
-
51749110028
-
Accurate prediction of stability changes in protein mutants by combining machine learning with structure based computational mutagenesis
-
Masso M., Vaisman I.I. Accurate prediction of stability changes in protein mutants by combining machine learning with structure based computational mutagenesis. Bioinformatics 2008, 24:2002-2009.
-
(2008)
Bioinformatics
, vol.24
, pp. 2002-2009
-
-
Masso, M.1
Vaisman, I.I.2
-
25
-
-
67650021210
-
Effective knowledge-based potentials
-
Ferrada E., Melo F. Effective knowledge-based potentials. Protein Sci 2009, 18:1469-1485.
-
(2009)
Protein Sci
, vol.18
, pp. 1469-1485
-
-
Ferrada, E.1
Melo, F.2
-
26
-
-
60049093576
-
Predicting protein folding cores by empirical potential functions
-
Chen M., Dousis A.D., Wu Y., Wittung-Stafshede P., Ma J. Predicting protein folding cores by empirical potential functions. Arch Biochem Biophys 2009, 483:16-22.
-
(2009)
Arch Biochem Biophys
, vol.483
, pp. 16-22
-
-
Chen, M.1
Dousis, A.D.2
Wu, Y.3
Wittung-Stafshede, P.4
Ma, J.5
-
27
-
-
34249777526
-
Eris: an automated estimator of protein stability
-
Yin S., Ding F., Dokholyan N.V. Eris: an automated estimator of protein stability. Nat Methods 2007, 4:466-467.
-
(2007)
Nat Methods
, vol.4
, pp. 466-467
-
-
Yin, S.1
Ding, F.2
Dokholyan, N.V.3
-
28
-
-
39849107329
-
Protein stability prediction: a Poisson-Boltzmann approach
-
Tan Y.H., Luo R. Protein stability prediction: a Poisson-Boltzmann approach. J Phys Chem B 2008, 112:1875-1883.
-
(2008)
J Phys Chem B
, vol.112
, pp. 1875-1883
-
-
Tan, Y.H.1
Luo, R.2
-
29
-
-
46449087936
-
Relationship between energy distribution and fold stability: insights from molecular dynamics simulations of native and mutant proteins
-
Morra G., Colombo G. Relationship between energy distribution and fold stability: insights from molecular dynamics simulations of native and mutant proteins. Proteins 2008, 72:660-672.
-
(2008)
Proteins
, vol.72
, pp. 660-672
-
-
Morra, G.1
Colombo, G.2
-
31
-
-
27544469800
-
Predicting protein stability changes from sequences using support vector machines
-
Capriotti E., Fariselli P., Calabrese R., Casadio R. Predicting protein stability changes from sequences using support vector machines. Bioinformatics 2005, 21(Suppl 2):ii54-ii58.
-
(2005)
Bioinformatics
, vol.21
, Issue.SUPPL 2
-
-
Capriotti, E.1
Fariselli, P.2
Calabrese, R.3
Casadio, R.4
-
32
-
-
11844281294
-
A neural-network-based method for predicting protein stability changes upon single point mutations
-
Capriotti E., Fariselli P., Casadio R. A neural-network-based method for predicting protein stability changes upon single point mutations. Bioinformatics 2004, 20(Suppl 1):i63-i68.
-
(2004)
Bioinformatics
, vol.20
, Issue.SUPPL 1
-
-
Capriotti, E.1
Fariselli, P.2
Casadio, R.3
-
33
-
-
23144461249
-
I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure
-
Capriotti E., Fariselli P., Casadio R. I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res 2005, 33:W306-W310.
-
(2005)
Nucleic Acids Res
, vol.33
-
-
Capriotti, E.1
Fariselli, P.2
Casadio, R.3
-
34
-
-
33644847172
-
Prediction of protein stability changes for single-site mutations using support vector machines
-
Cheng J., Randall A., Baldi P. Prediction of protein stability changes for single-site mutations using support vector machines. Proteins 2006, 62:1125-1132.
-
(2006)
Proteins
, vol.62
, pp. 1125-1132
-
-
Cheng, J.1
Randall, A.2
Baldi, P.3
-
35
-
-
46249096540
-
Predicting protein thermostability changes from sequence upon multiple mutations
-
Montanucci L., Fariselli P., Martelli P.L., Casadio R. Predicting protein thermostability changes from sequence upon multiple mutations. Bioinformatics 2008, 24:i190-195.
-
(2008)
Bioinformatics
, vol.24
-
-
Montanucci, L.1
Fariselli, P.2
Martelli, P.L.3
Casadio, R.4
-
36
-
-
69949115157
-
Reliable prediction of protein thermostability change upon double mutation from amino acid sequence
-
Huang L.T., Gromiha M.M. Reliable prediction of protein thermostability change upon double mutation from amino acid sequence. Bioinformatics 2009, 25:2181-2187.
-
(2009)
Bioinformatics
, vol.25
, pp. 2181-2187
-
-
Huang, L.T.1
Gromiha, M.M.2
-
37
-
-
74549207309
-
Assessing computational methods for predicting protein stability upon mutation: good on average but not in the details
-
Potapov V., Cohen M., Schreiber G. Assessing computational methods for predicting protein stability upon mutation: good on average but not in the details. Protein Eng Des Select 2009, 22:553-560.
-
(2009)
Protein Eng Des Select
, vol.22
, pp. 553-560
-
-
Potapov, V.1
Cohen, M.2
Schreiber, G.3
-
38
-
-
0345863841
-
TopoSNP: a topographic database of non-synonymous single nucleotide polymorphisms with and without known disease association
-
Stitziel N.O., Binkowski T.A., Tseng Y.Y., Kasif S., Liang J. topoSNP: a topographic database of non-synonymous single nucleotide polymorphisms with and without known disease association. Nucleic Acids Res 2004, 32:D520-522.
-
(2004)
Nucleic Acids Res
, vol.32
-
-
Stitziel, N.O.1
Binkowski, T.A.2
Tseng, Y.Y.3
Kasif, S.4
Liang, J.5
-
39
-
-
33645764714
-
SNPs3D: candidate gene and SNP selection for association studies
-
Yue P., Melamud E., Moult J. SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics 2006, 7:166.
-
(2006)
BMC Bioinformatics
, vol.7
, pp. 166
-
-
Yue, P.1
Melamud, E.2
Moult, J.3
-
40
-
-
20844461337
-
LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources
-
Karchin R., Diekhans M., Kelly L., Thomas D., Pieper U., Eswar N., Haussler D., Sali A. LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources. Bioinformatics 2005, 21:2814-2820.
-
(2005)
Bioinformatics
, vol.21
, pp. 2814-2820
-
-
Karchin, R.1
Diekhans, M.2
Kelly, L.3
Thomas, D.4
Pieper, U.5
Eswar, N.6
Haussler, D.7
Sali, A.8
-
41
-
-
33751013750
-
Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information
-
Capriotti E., Calabrese R., Casadio R. Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information. Bioinformatics 2006, 22:2729-2734.
-
(2006)
Bioinformatics
, vol.22
, pp. 2729-2734
-
-
Capriotti, E.1
Calabrese, R.2
Casadio, R.3
-
42
-
-
34547765932
-
Sequence-based prioritization of nonsynonymous single-nucleotide polymorphisms for the study of disease mutations
-
Jiang R., Yang H., Zhou L., Kuo C.C., Sun F., Chen T. Sequence-based prioritization of nonsynonymous single-nucleotide polymorphisms for the study of disease mutations. Am J Hum Genet 2007, 81:346-360.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 346-360
-
-
Jiang, R.1
Yang, H.2
Zhou, L.3
Kuo, C.C.4
Sun, F.5
Chen, T.6
-
43
-
-
50849127837
-
Genetic variation in an individual human exome
-
Ng P.C., Levy S., Huang J., Stockwell T.B., Walenz B.P., Li K., Axelrod N., Busam D.A., Strausberg R.L., Venter J.C. Genetic variation in an individual human exome. PLoS Genet 2008, 4:e1000160.
-
(2008)
PLoS Genet
, vol.4
-
-
Ng, P.C.1
Levy, S.2
Huang, J.3
Stockwell, T.B.4
Walenz, B.P.5
Li, K.6
Axelrod, N.7
Busam, D.A.8
Strausberg, R.L.9
Venter, J.C.10
-
44
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng S.B., Turner E.H., Robertson P.D., Flygare S.D., Bigham A.W., Lee C., Shaffer T., Wong M., Bhattacharjee A., Eichler E.E., et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009, 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
Lee, C.6
Shaffer, T.7
Wong, M.8
Bhattacharjee, A.9
Eichler, E.E.10
-
45
-
-
44949129000
-
Assessing the evolutionary impact of amino acid mutations in the human genome
-
Boyko A.R., Williamson S.H., Indap A.R., Degenhardt J.D., Hernandez R.D., Lohmueller K.E., Adams M.D., Schmidt S., Sninsky J.J., Sunyaev S.R., et al. Assessing the evolutionary impact of amino acid mutations in the human genome. PLoS Genet 2008, 4:e1000083.
-
(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
Lohmueller, K.E.6
Adams, M.D.7
Schmidt, S.8
Sninsky, J.J.9
Sunyaev, S.R.10
-
46
-
-
38749145596
-
Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms
-
Gorlov I.P., Gorlova O.Y., Sunyaev S.R., Spitz M.R., Amos C.I. Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet 2008, 82:100-112.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 100-112
-
-
Gorlov, I.P.1
Gorlova, O.Y.2
Sunyaev, S.R.3
Spitz, M.R.4
Amos, C.I.5
-
47
-
-
20344380699
-
Simultaneous inference of selection and population growth from patterns of variation in the human genome
-
Williamson S.H., Hernandez R., Fledel-Alon A., Zhu L., Nielsen R., Bustamante C.D. Simultaneous inference of selection and population growth from patterns of variation in the human genome. Proc Natl Acad Sci U S A 2005, 102:7882-7887.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 7882-7887
-
-
Williamson, S.H.1
Hernandez, R.2
Fledel-Alon, A.3
Zhu, L.4
Nielsen, R.5
Bustamante, C.D.6
-
48
-
-
33745347447
-
The distribution of fitness effects of new deleterious amino acid mutations in humans
-
Eyre-Walker A., Woolfit M., Phelps T. The distribution of fitness effects of new deleterious amino acid mutations in humans. Genetics 2006, 173:891-900.
-
(2006)
Genetics
, vol.173
, pp. 891-900
-
-
Eyre-Walker, A.1
Woolfit, M.2
Phelps, T.3
-
49
-
-
27744541698
-
Distribution of the strength of selection against amino acid replacements in human proteins
-
Yampolsky L.Y., Kondrashov F.A., Kondrashov A.S. Distribution of the strength of selection against amino acid replacements in human proteins. Hum Mol Genet 2005, 14:3191-3201.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3191-3201
-
-
Yampolsky, L.Y.1
Kondrashov, F.A.2
Kondrashov, A.S.3
-
50
-
-
34147116715
-
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies
-
Kryukov G.V., Pennacchio L.A., Sunyaev S.R. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 2007, 80:727-739.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 727-739
-
-
Kryukov, G.V.1
Pennacchio, L.A.2
Sunyaev, S.R.3
-
51
-
-
62649084535
-
Power of deep, all-exon resequencing for discovery of human trait genes
-
Kryukov G.V., Shpunt A., Stamatoyannopoulos J.A., Sunyaev S.R. Power of deep, all-exon resequencing for discovery of human trait genes. Proc Natl Acad Sci U S A 2009, 106:3871-3876.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 3871-3876
-
-
Kryukov, G.V.1
Shpunt, A.2
Stamatoyannopoulos, J.A.3
Sunyaev, S.R.4
-
52
-
-
37249042614
-
Joint inference of the distribution of fitness effects of deleterious mutations and population demography based on nucleotide polymorphism frequencies
-
Keightley P., Eyre-Walker A. Joint inference of the distribution of fitness effects of deleterious mutations and population demography based on nucleotide polymorphism frequencies. Genetics 2007, 177:2251-2261.
-
(2007)
Genetics
, vol.177
, pp. 2251-2261
-
-
Keightley, P.1
Eyre-Walker, A.2
-
53
-
-
0034969437
-
Are rare variants responsible for susceptibility to complex diseases?
-
Pritchard J.K. Are rare variants responsible for susceptibility to complex diseases?. Am J Hum Genet 2001, 69:124-137.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 124-137
-
-
Pritchard, J.K.1
-
54
-
-
44349132708
-
Common and rare variants in multifactorial susceptibility to common diseases
-
Bodmer W., Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008, 40:695-701.
-
(2008)
Nat Genet
, vol.40
, pp. 695-701
-
-
Bodmer, W.1
Bonilla, C.2
-
55
-
-
39749139577
-
Proportionally more deleterious genetic variation in European than in African populations
-
Lohmueller K.E., Indap A.R., Schmidt S., Boyko A.R., Hernandez R.D., Hubisz M.J., Sninsky J.J., White T.J., Sunyaev S.R., Nielsen R., et al. Proportionally more deleterious genetic variation in European than in African populations. Nature 2008, 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
Hubisz, M.J.6
Sninsky, J.J.7
White, T.J.8
Sunyaev, S.R.9
Nielsen, R.10
-
56
-
-
39749136156
-
Natural selection has driven population differentiation in modern humans
-
Barreiro L.B., Laval G., Quach H., Patin E., Quintana-Murci L. Natural selection has driven population differentiation in modern humans. Nat Genet 2008, 40:340-345.
-
(2008)
Nat Genet
, vol.40
, pp. 340-345
-
-
Barreiro, L.B.1
Laval, G.2
Quach, H.3
Patin, E.4
Quintana-Murci, L.5
-
57
-
-
55549111626
-
Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group
-
Group IUGVW
-
Tavtigian S.V., Greenblatt M.S., Goldgar D.E., Boffetta P. Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group. Hum Mutat 2008, 29:1261-1264. Group IUGVW.
-
(2008)
Hum Mutat
, vol.29
, pp. 1261-1264
-
-
Tavtigian, S.V.1
Greenblatt, M.S.2
Goldgar, D.E.3
Boffetta, P.4
-
58
-
-
55549145156
-
In silico analysis of missense substitutions using sequence-alignment based methods
-
Group IUGVW
-
Tavtigian S.V., Greenblatt M.S., Lesueur F., Byrnes G.B. In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat 2008, 29:1327-1336. Group IUGVW.
-
(2008)
Hum Mutat
, vol.29
, pp. 1327-1336
-
-
Tavtigian, S.V.1
Greenblatt, M.S.2
Lesueur, F.3
Byrnes, G.B.4
-
59
-
-
55549137442
-
Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
-
Group IUGVW
-
Goldgar D.E., Easton D.F., Byrnes G.B., Spurdle A.B., Iversen E.S., Greenblatt M.S. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum Mutat 2008, 29:1265-1272. Group IUGVW.
-
(2008)
Hum Mutat
, vol.29
, pp. 1265-1272
-
-
Goldgar, D.E.1
Easton, D.F.2
Byrnes, G.B.3
Spurdle, A.B.4
Iversen, E.S.5
Greenblatt, M.S.6
-
60
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng S.B., Buckingham K.J., Lee C., Bigham A.W., Tabor H.K., Dent K.M., Huff C.D., Shannon P.T., Jabs E.W., Nickerson D.A., et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2009, 42:30-35.
-
(2009)
Nat Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
Dent, K.M.6
Huff, C.D.7
Shannon, P.T.8
Jabs, E.W.9
Nickerson, D.A.10
-
61
-
-
54549108740
-
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
-
McLendon R., Friedman A., Bigner D., Van Meir E., Brat D., Mastrogianakis M.G., Olson J., Mikkelsen T., Lehman N., Aldape K., et al. Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 2008, 455:1061-1068.
-
(2008)
Nature
, vol.455
, pp. 1061-1068
-
-
McLendon, R.1
Friedman, A.2
Bigner, D.3
Van Meir, E.4
Brat, D.5
Mastrogianakis, M.G.6
Olson, J.7
Mikkelsen, T.8
Lehman, N.9
Aldape, K.10
-
62
-
-
55549101623
-
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
-
Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 2008, 456:66-72.
-
(2008)
Nature
, vol.456
, pp. 66-72
-
-
Ley, T.J.1
Mardis, E.R.2
Ding, L.3
Fulton, B.4
McLellan, M.D.5
Chen, K.6
Dooling, D.7
Dunford-Shore, B.H.8
McGrath, S.9
Hickenbotham, M.10
-
63
-
-
33947188719
-
Cancer: drivers and passengers
-
Haber D.A., Settleman J. Cancer: drivers and passengers. Nature 2007, 446:145-146.
-
(2007)
Nature
, vol.446
, pp. 145-146
-
-
Haber, D.A.1
Settleman, J.2
-
64
-
-
34547566118
-
CanPredict: a computational tool for predicting cancer-associated missense mutations
-
Kaminker J.S., Zhang Y., Watanabe C., Zhang Z. CanPredict: a computational tool for predicting cancer-associated missense mutations. Nucleic Acids Res 2007, 35:W595-598.
-
(2007)
Nucleic Acids Res
, vol.35
-
-
Kaminker, J.S.1
Zhang, Y.2
Watanabe, C.3
Zhang, Z.4
-
65
-
-
77949537825
-
Bi-directional SIFT predicts a subset of activating mutations
-
Lee W., Zhang Y., Mukhyala K., Lazarus R.A., Zhang Z. Bi-directional SIFT predicts a subset of activating mutations. PloS One 2009, 4:e8311.
-
(2009)
PloS One
, vol.4
-
-
Lee, W.1
Zhang, Y.2
Mukhyala, K.3
Lazarus, R.A.4
Zhang, Z.5
-
66
-
-
3843056691
-
Multiple rare alleles contribute to low plasma levels of HDL cholesterol
-
Cohen J.C., Kiss R.S., Pertsemlidis A., Marcel Y.L., McPherson R., Hobbs H.H. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 2004, 305:869-872.
-
(2004)
Science
, vol.305
, pp. 869-872
-
-
Cohen, J.C.1
Kiss, R.S.2
Pertsemlidis, A.3
Marcel, Y.L.4
McPherson, R.5
Hobbs, H.H.6
-
67
-
-
33645103550
-
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
-
Cohen J.C., Boerwinkle E., Mosley T.H., Hobbs H.H. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. New Engl J Med 2006, 354:1264-1272.
-
(2006)
New Engl J Med
, vol.354
, pp. 1264-1272
-
-
Cohen, J.C.1
Boerwinkle, E.2
Mosley, T.H.3
Hobbs, H.H.4
-
68
-
-
34047177395
-
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL
-
Romeo S., Pennacchio L.A., Fu Y., Boerwinkle E., Tybjaerg-Hansen A., Hobbs H.H., Cohen J.C. Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet 2007, 39:513-516.
-
(2007)
Nat Genet
, vol.39
, pp. 513-516
-
-
Romeo, S.1
Pennacchio, L.A.2
Fu, Y.3
Boerwinkle, E.4
Tybjaerg-Hansen, A.5
Hobbs, H.H.6
Cohen, J.C.7
-
69
-
-
34147154100
-
Medical sequencing at the extremes of human body mass
-
Ahituv N., Kavaslar N., Schackwitz W., Ustaszewska A., Martin J., Hebert S., Doelle H., Ersoy B., Kryukov G., Schmidt S., et al. Medical sequencing at the extremes of human body mass. Am J Hum Genet 2007, 80:779-791.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 779-791
-
-
Ahituv, N.1
Kavaslar, N.2
Schackwitz, W.3
Ustaszewska, A.4
Martin, J.5
Hebert, S.6
Doelle, H.7
Ersoy, B.8
Kryukov, G.9
Schmidt, S.10
-
70
-
-
42649084334
-
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
-
Ji W., Foo J.N., O'Roak B.J., Zhao H., Larson M.G., Simon D.B., Newton-Cheh C., State M.W., Levy D., Lifton R.P. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008, 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
Simon, D.B.6
Newton-Cheh, C.7
State, M.W.8
Levy, D.9
Lifton, R.P.10
-
71
-
-
65249131713
-
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
-
Nejentsev S., Walker N., Riches D., Egholm M., Todd J.A. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 2009, 324:387-389.
-
(2009)
Science
, vol.324
, pp. 387-389
-
-
Nejentsev, S.1
Walker, N.2
Riches, D.3
Egholm, M.4
Todd, J.A.5
-
72
-
-
61749090233
-
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans
-
Romeo S., Yin W., Kozlitina J., Pennacchio L.A., Boerwinkle E., Hobbs H.H., Cohen J.C. Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J Clin Invest 2009, 119:70-79.
-
(2009)
J Clin Invest
, vol.119
, pp. 70-79
-
-
Romeo, S.1
Yin, W.2
Kozlitina, J.3
Pennacchio, L.A.4
Boerwinkle, E.5
Hobbs, H.H.6
Cohen, J.C.7
-
73
-
-
33750578872
-
Searching for interpretable rules for disease mutations: a simulated annealing bump hunting strategy
-
Jiang R., Yang H., Sun F., Chen T. Searching for interpretable rules for disease mutations: a simulated annealing bump hunting strategy. BMC Bioinformatics 2006, 7:417.
-
(2006)
BMC Bioinformatics
, vol.7
, pp. 417
-
-
Jiang, R.1
Yang, H.2
Sun, F.3
Chen, T.4
-
74
-
-
23144437332
-
NsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms
-
Bao L., Zhou M., Cui Y. nsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphisms. Nucleic Acids Res 2005, 33:W480-482.
-
(2005)
Nucleic Acids Res
, vol.33
-
-
Bao, L.1
Zhou, M.2
Cui, Y.3
-
75
-
-
0141742293
-
PANTHER: a library of protein families and subfamilies indexed by function
-
Thomas P.D., Campbell M.J., Kejariwal A., Mi H., Karlak B., Daverman R., Diemer K., Muruganujan A., Narechania A. PANTHER: a library of protein families and subfamilies indexed by function. Genome Res 2003, 13:2129-2141.
-
(2003)
Genome Res
, vol.13
, pp. 2129-2141
-
-
Thomas, P.D.1
Campbell, M.J.2
Kejariwal, A.3
Mi, H.4
Karlak, B.5
Daverman, R.6
Diemer, K.7
Muruganujan, A.8
Narechania, A.9
-
76
-
-
7444227970
-
Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects
-
Thomas P.D., Kejariwal A. Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects. Proc Natl Acad Sci U S A 2004, 101:15398-15403.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 15398-15403
-
-
Thomas, P.D.1
Kejariwal, A.2
-
77
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P., Henikoff S., Ng P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009, 4:1073-1081.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
78
-
-
32044453591
-
Identification and analysis of deleterious human SNPs
-
Yue P., Moult J. Identification and analysis of deleterious human SNPs. J Mol Biol 2006, 356:1263-1274.
-
(2006)
J Mol Biol
, vol.356
, pp. 1263-1274
-
-
Yue, P.1
Moult, J.2
|