-
1
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
1000 Genomes Project Consortium
-
1000 Genomes Project Consortium. 2010. A map of human genome variation from population-scale sequencing. Nature 467:1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
2
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.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
-
3
-
-
84858205858
-
Classification of mismatch repair gene missense variants with PON-MMR
-
Ali H, Olatubosun A, Vihinen M. 2012. Classification of mismatch repair gene missense variants with PON-MMR. Hum Mutat 33:642-650.
-
(2012)
Hum Mutat
, vol.33
, pp. 642-650
-
-
Ali, H.1
Olatubosun, A.2
Vihinen, M.3
-
4
-
-
59149101254
-
Faciogenital dysplasia protein Fgd1 regulates invadopodia biogenesis and extracellular matrix degradation and is up-regulated in prostate and breast cancer
-
Ayala I, Giacchetti G, Caldieri G, Attanasio F, Mariggio S, Tete S, Polishchuk R, Castronovo V, Buccione R. 2009. Faciogenital dysplasia protein Fgd1 regulates invadopodia biogenesis and extracellular matrix degradation and is up-regulated in prostate and breast cancer. Cancer Res 69:747-752.
-
(2009)
Cancer Res
, vol.69
, pp. 747-752
-
-
Ayala, I.1
Giacchetti, G.2
Caldieri, G.3
Attanasio, F.4
Mariggio, S.5
Tete, S.6
Polishchuk, R.7
Castronovo, V.8
Buccione, R.9
-
5
-
-
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
-
6
-
-
27644521904
-
Proprotein convertases: "master switches" in the regulation of tumor growth and progression
-
Bassi DE, Fu J, Lopez de Cicco R, Klein-Szanto AJ. 2005. Proprotein convertases: "master switches" in the regulation of tumor growth and progression. Mol Carcinog 44:151-161.
-
(2005)
Mol Carcinog
, vol.44
, pp. 151-161
-
-
Bassi, D.E.1
Fu, J.2
Lopez de Cicco, R.3
Klein-Szanto, A.J.4
-
7
-
-
33846849470
-
RPS6KA2, a putative tumour suppressor gene at 6q27 in sporadic epithelial ovarian cancer
-
Bignone PA, Lee KY, Liu Y, Emilion G, Finch J, Soosay AE, Charnock FM, Beck S, Dunham I, Mungall AJ, Ganesan TS. 2007. RPS6KA2, a putative tumour suppressor gene at 6q27 in sporadic epithelial ovarian cancer. Oncogene 26:683-700.
-
(2007)
Oncogene
, vol.26
, pp. 683-700
-
-
Bignone, P.A.1
Lee, K.Y.2
Liu, Y.3
Emilion, G.4
Finch, J.5
Soosay, A.E.6
Charnock, F.M.7
Beck, S.8
Dunham, I.9
Mungall, A.J.10
Ganesan, T.S.11
-
8
-
-
74949129174
-
ProPhylER: a curated online resource for protein function and structure based on evolutionary constraint analyses
-
Binkley J, Karra K, Kirby A, Hosobuchi M, Stone EA, Sidow A. 2010. ProPhylER: a curated online resource for protein function and structure based on evolutionary constraint analyses. Genome Res 20:142-154.
-
(2010)
Genome Res
, vol.20
, pp. 142-154
-
-
Binkley, J.1
Karra, K.2
Kirby, A.3
Hosobuchi, M.4
Stone, E.A.5
Sidow, A.6
-
9
-
-
0035478854
-
Random forests
-
Breiman L. 2001. Random forests. Mach Learn 45:5-32.
-
(2001)
Mach Learn
, vol.45
, pp. 5-32
-
-
Breiman, L.1
-
10
-
-
0003802343
-
-
Wadsworth, Belmont, CA: Chapman and Hall/CRC.
-
Breiman L, Friedman J, Ohlsen R, Stone C. 1984. Classification and regression trees. Wadsworth, Belmont, CA: Chapman and Hall/CRC.
-
(1984)
Classification and regression trees
-
-
Breiman, L.1
Friedman, J.2
Ohlsen, R.3
Stone, C.4
-
11
-
-
34547100092
-
SNAP: predict effect of non-synonymous polymorphisms on function
-
Bromberg Y, Rost B. 2007. SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res 35:3823-3835.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 3823-3835
-
-
Bromberg, Y.1
Rost, B.2
-
12
-
-
67749137351
-
Functional annotations improve the predictive score of human disease-related mutations in proteins
-
Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. 2009. Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat 30:1237-1244.
-
(2009)
Hum Mutat
, vol.30
, pp. 1237-1244
-
-
Calabrese, R.1
Capriotti, E.2
Fariselli, P.3
Martelli, P.L.4
Casadio, R.5
-
13
-
-
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. 2006. Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information. Bioinformatics 22:2729-2734.
-
(2006)
Bioinformatics
, vol.22
, pp. 2729-2734
-
-
Capriotti, E.1
Calabrese, R.2
Casadio, R.3
-
14
-
-
43349096923
-
A three-state prediction of single point mutations on protein stability changes
-
Capriotti E, Fariselli P, Rossi I, Casadio R. 2008. A three-state prediction of single point mutations on protein stability changes. BMC Bioinformatics 9 Suppl 2:S6.
-
(2008)
BMC Bioinformatics
, vol.9
, Issue.SUPPL. 2
-
-
Capriotti, E.1
Fariselli, P.2
Rossi, I.3
Casadio, R.4
-
15
-
-
0014710323
-
On optimum recognition error and reject tradeoff
-
Chow C. 1970. On optimum recognition error and reject tradeoff. IEEE Trans Inf Theory 16:41-46.
-
(1970)
IEEE Trans Inf Theory
, vol.16
, pp. 41-46
-
-
Chow, C.1
-
16
-
-
2442694043
-
Large-scale analysis of non-synonymous coding region single nucleotide polymorphisms
-
Clifford RJ, Edmonson MN, Nguyen C, Buetow KH. 2004. Large-scale analysis of non-synonymous coding region single nucleotide polymorphisms. Bioinformatics 20:1006-1014.
-
(2004)
Bioinformatics
, vol.20
, pp. 1006-1014
-
-
Clifford, R.J.1
Edmonson, M.N.2
Nguyen, C.3
Buetow, K.H.4
-
17
-
-
79951521614
-
Using bioinformatics to predict the functional impact of SNVs
-
Cline MS, Karchin R. 2011. Using bioinformatics to predict the functional impact of SNVs. Bioinformatics 27:441-448.
-
(2011)
Bioinformatics
, vol.27
, pp. 441-448
-
-
Cline, M.S.1
Karchin, R.2
-
18
-
-
0027242497
-
A statistical decision rule with incomplete knowledge about classes
-
Dubuisson B, Masson M. 1993. A statistical decision rule with incomplete knowledge about classes. Pattern Recogn 26:155-165.
-
(1993)
Pattern Recogn
, vol.26
, pp. 155-165
-
-
Dubuisson, B.1
Masson, M.2
-
19
-
-
33646023117
-
An introduction to ROC analysis
-
Fawcett T. 2006. An introduction to ROC analysis. Pattern Recogn Lett 27:861-874.
-
(2006)
Pattern Recogn Lett
, vol.27
, pp. 861-874
-
-
Fawcett, T.1
-
20
-
-
0042635811
-
Pdef expression in human breast cancer is correlated with invasive potential and altered gene expression
-
Feldman RJ, Sementchenko VI, Gayed M, Fraig MM, Watson DK. 2003. Pdef expression in human breast cancer is correlated with invasive potential and altered gene expression. Cancer Res 63:4626-4631.
-
(2003)
Cancer Res
, vol.63
, pp. 4626-4631
-
-
Feldman, R.J.1
Sementchenko, V.I.2
Gayed, M.3
Fraig, M.M.4
Watson, D.K.5
-
21
-
-
79959471457
-
Bioinformatics challenges for personalized medicine
-
Fernald GH, Capriotti E, Daneshjou R, Karczewski KJ, Altman RB. 2011. Bioinformatics challenges for personalized medicine. Bioinformatics 27:1741-1748.
-
(2011)
Bioinformatics
, vol.27
, pp. 1741-1748
-
-
Fernald, G.H.1
Capriotti, E.2
Daneshjou, R.3
Karczewski, K.J.4
Altman, R.B.5
-
22
-
-
56349164360
-
Reduced tumorigenesis in mouse mammary cancer cells following inhibition of Pea3- or erm-dependent transcription
-
Firlej V, Ladam F, Brysbaert G, Dumont P, Fuks F, de Launoit Y, Benecke A, Chotteau-Lelievre A. 2008. Reduced tumorigenesis in mouse mammary cancer cells following inhibition of Pea3- or erm-dependent transcription. J Cell Sci 121:3393-3402.
-
(2008)
J Cell Sci
, vol.121
, pp. 3393-3402
-
-
Firlej, V.1
Ladam, F.2
Brysbaert, G.3
Dumont, P.4
Fuks, F.5
de Launoit, Y.6
Benecke, A.7
Chotteau-Lelievre, A.8
-
23
-
-
78651289449
-
Ensembl 2011
-
Flicek P, Amode MR, Barrell D, Beal K, Brent S, Chen Y, Clapham P, Coates G, Fairley S, Fitzgerald S, Gordon L, Hendrix M, et al. 2011. Ensembl 2011. Nucleic Acids Res 39:D800-D806.
-
(2011)
Nucleic Acids Res
, vol.39
-
-
Flicek, P.1
Amode, M.R.2
Barrell, D.3
Beal, K.4
Brent, S.5
Chen, Y.6
Clapham, P.7
Coates, G.8
Fairley, S.9
Fitzgerald, S.10
Gordon, L.11
Hendrix, M.12
-
24
-
-
78651330430
-
COSMIC: mining complete cancer genomes in the catalogue of somatic mutations in cancer
-
Forbes SA, Bindal N, Bamford S, Cole C, Kok CY, Beare D, Jia M, Shepherd R, Leung K, Menzies A, Teague JW, Campbell PJ, Stratton MR, Futreal PA. 2011. COSMIC: mining complete cancer genomes in the catalogue of somatic mutations in cancer. Nucleic Acids Res 39:D945-D950.
-
(2011)
Nucleic Acids Res
, vol.39
-
-
Forbes, S.A.1
Bindal, N.2
Bamford, S.3
Cole, C.4
Kok, C.Y.5
Beare, D.6
Jia, M.7
Shepherd, R.8
Leung, K.9
Menzies, A.10
Teague, J.W.11
Campbell, P.J.12
Stratton, M.R.13
Futreal, P.A.14
-
25
-
-
34248336122
-
PhenCode: connecting ENCODE data with mutations and phenotype
-
Giardine B, Riemer C, Hefferon T, Thomas D, Hsu F, Zielenski J, Sang Y, Elnitski L, Cutting G, Trumbower H, Kern A, Kuhn R, et al. 2007. PhenCode: connecting ENCODE data with mutations and phenotype. Hum Mutat 28:554-562.
-
(2007)
Hum Mutat
, vol.28
, pp. 554-562
-
-
Giardine, B.1
Riemer, C.2
Hefferon, T.3
Thomas, D.4
Hsu, F.5
Zielenski, J.6
Sang, Y.7
Elnitski, L.8
Cutting, G.9
Trumbower, H.10
Kern, A.11
Kuhn, R.12
-
26
-
-
79953715693
-
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, condel
-
González-Pérez A, López-Bigas N. 2011. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, condel. Am J Hum Genet 88:440-449.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 440-449
-
-
González-Pérez, A.1
López-Bigas, N.2
-
27
-
-
33947101019
-
Patterns of somatic mutation in human cancer genomes
-
Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, et al. 2007. Patterns of somatic mutation in human cancer genomes. Nature 446:153-158.
-
(2007)
Nature
, vol.446
, pp. 153-158
-
-
Greenman, C.1
Stephens, P.2
Smith, R.3
Dalgliesh, G.L.4
Hunter, C.5
Bignell, G.6
Davies, H.7
Teague, J.8
Butler, A.9
Stevens, C.10
Edkins, S.11
O'Meara, S.12
-
28
-
-
34249295952
-
Reduced PDEF expression increases invasion and expression of mesenchymal genes in prostate cancer cells
-
Gu X, Zerbini LF, Otu HH, Bhasin M, Yang Q, Joseph MG, Grall F, Onatunde T, Correa RG, Libermann TA. 2007. Reduced PDEF expression increases invasion and expression of mesenchymal genes in prostate cancer cells. Cancer Res 67:4219-4226.
-
(2007)
Cancer Res
, vol.67
, pp. 4219-4226
-
-
Gu, X.1
Zerbini, L.F.2
Otu, H.H.3
Bhasin, M.4
Yang, Q.5
Joseph, M.G.6
Grall, F.7
Onatunde, T.8
Correa, R.G.9
Libermann, T.A.10
-
29
-
-
29244439004
-
Novel role for PDEF in epithelial cell migration and invasion
-
Gunawardane RN, Sgroi DC, Wrobel CN, Koh E, Daley GQ, Brugge JS. 2005. Novel role for PDEF in epithelial cell migration and invasion. Cancer Res 65:11572-11580.
-
(2005)
Cancer Res
, vol.65
, pp. 11572-11580
-
-
Gunawardane, R.N.1
Sgroi, D.C.2
Wrobel, C.N.3
Koh, E.4
Daley, G.Q.5
Brugge, J.S.6
-
31
-
-
66449084442
-
Infrastructure for the life sciences: design and implementation of the UniProt website
-
Jain E, Bairoch A, Duvaud S, Phan I, Redaschi N, Suzek BE, Martin MJ, McGarvey P, Gasteiger E. 2009. Infrastructure for the life sciences: design and implementation of the UniProt website. BMC Bioinformatics 10:136.
-
(2009)
BMC Bioinformatics
, vol.10
, pp. 136
-
-
Jain, E.1
Bairoch, A.2
Duvaud, S.3
Phan, I.4
Redaschi, N.5
Suzek, B.E.6
Martin, M.J.7
McGarvey, P.8
Gasteiger, E.9
-
32
-
-
52149123619
-
Core signaling pathways in human pancreatic cancers revealed by global genomic analyses
-
Jones S, Zhang X, Parsons DW, Lin JC, Leary RJ, Angenendt P, Mankoo P, Carter H, Kamiyama H, Jimeno A, Hong SM, Fu B, et al. 2008. Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science 321:1801-1806.
-
(2008)
Science
, vol.321
, pp. 1801-1806
-
-
Jones, S.1
Zhang, X.2
Parsons, D.W.3
Lin, J.C.4
Leary, R.J.5
Angenendt, P.6
Mankoo, P.7
Carter, H.8
Kamiyama, H.9
Jimeno, A.10
Hong, S.M.11
Fu, B.12
-
33
-
-
77955660663
-
Diverse somatic mutation patterns and pathway alterations in human cancers
-
Kan Z, Jaiswal BS, Stinson J, Janakiraman V, Bhatt D, Stern HM, Yue P, Haverty PM, Bourgon R, Zheng J, Moorhead M, Chaudhuri S, et al. 2010. Diverse somatic mutation patterns and pathway alterations in human cancers. Nature 466:869-873.
-
(2010)
Nature
, vol.466
, pp. 869-873
-
-
Kan, Z.1
Jaiswal, B.S.2
Stinson, J.3
Janakiraman, V.4
Bhatt, D.5
Stern, H.M.6
Yue, P.7
Haverty, P.M.8
Bourgon, R.9
Zheng, J.10
Moorhead, M.11
Chaudhuri, S.12
-
35
-
-
77952706843
-
Performance of protein stability predictors
-
Khan S, Vihinen M. 2010. Performance of protein stability predictors. Hum Mutat 31:675-684.
-
(2010)
Hum Mutat
, vol.31
, pp. 675-684
-
-
Khan, S.1
Vihinen, M.2
-
36
-
-
70349609036
-
Simultaneous suppression of MITF and BRAF V600E enhanced inhibition of melanoma cell proliferation
-
Kido K, Sumimoto H, Asada S, Okada SM, Yaguchi T, Kawamura N, Miyagishi M, Saida T, Kawakami Y. 2009. Simultaneous suppression of MITF and BRAF V600E enhanced inhibition of melanoma cell proliferation. Cancer Sci 100:1863-1869.
-
(2009)
Cancer Sci
, vol.100
, pp. 1863-1869
-
-
Kido, K.1
Sumimoto, H.2
Asada, S.3
Okada, S.M.4
Yaguchi, T.5
Kawamura, N.6
Miyagishi, M.7
Saida, T.8
Kawakami, Y.9
-
37
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. 2009. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073-1081.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
38
-
-
34247254812
-
The receptor tyrosine kinase EphB4 is overexpressed in ovarian cancer, provides survival signals and predicts poor outcome
-
Kumar SR, Masood R, Spannuth WA, Singh J, Scehnet J, Kleiber G, Jennings N, Deavers M, Krasnoperov V, Dubeau L, Weaver FA, Sood AK, Gill PS. 2007. The receptor tyrosine kinase EphB4 is overexpressed in ovarian cancer, provides survival signals and predicts poor outcome. Br J Cancer 96:1083-1091.
-
(2007)
Br J Cancer
, vol.96
, pp. 1083-1091
-
-
Kumar, S.R.1
Masood, R.2
Spannuth, W.A.3
Singh, J.4
Scehnet, J.5
Kleiber, G.6
Jennings, N.7
Deavers, M.8
Krasnoperov, V.9
Dubeau, L.10
Weaver, F.A.11
Sood, A.K.12
Gill, P.S.13
-
39
-
-
67649403611
-
MADD, a splice variant of IG20, is indispensable for MAPK activation and protection against apoptosis upon tumor necrosis factor-alpha treatment
-
Kurada BR, Li LC, Mulherkar N, Subramanian M, Prasad KV, Prabhakar BS. 2009. MADD, a splice variant of IG20, is indispensable for MAPK activation and protection against apoptosis upon tumor necrosis factor-alpha treatment. J Biol Chem 284:13533-13541.
-
(2009)
J Biol Chem
, vol.284
, pp. 13533-13541
-
-
Kurada, B.R.1
Li, L.C.2
Mulherkar, N.3
Subramanian, M.4
Prasad, K.V.5
Prabhakar, B.S.6
-
40
-
-
33646075077
-
The interaction between classification and reject performance for distance-based reject-option classifiers
-
Landgrebe T, Tax J, Paclk P, Duin W. 2006. The interaction between classification and reject performance for distance-based reject-option classifiers. Pattern Recognit Lett 27:908-917.
-
(2006)
Pattern Recognit Lett
, vol.27
, pp. 908-917
-
-
Landgrebe, T.1
Tax, J.2
Paclk, P.3
Duin, W.4
-
41
-
-
70350671733
-
Automated inference of molecular mechanisms of disease from amino acid substitutions
-
Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, Mooney SD, Radivojac P. 2009. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 25:2744-2750.
-
(2009)
Bioinformatics
, vol.25
, pp. 2744-2750
-
-
Li, B.1
Krishnan, V.G.2
Mort, M.E.3
Xin, F.4
Kamati, K.K.5
Cooper, D.N.6
Mooney, S.D.7
Radivojac, P.8
-
42
-
-
0345040873
-
Classification and regression by randomForest
-
Liaw A, Wienner M. 2002. Classification and regression by randomForest. R News 2:18-22.
-
(2002)
R News
, vol.2
, pp. 18-22
-
-
Liaw, A.1
Wienner, M.2
-
43
-
-
79959873016
-
Correlation of somatic mutation and expression identifies genes important in human glioblastoma progression and survival
-
Masica DL, Karchin R. 2011. Correlation of somatic mutation and expression identifies genes important in human glioblastoma progression and survival. Cancer Res 71:4550-4561.
-
(2011)
Cancer Res
, vol.71
, pp. 4550-4561
-
-
Masica, D.L.1
Karchin, R.2
-
44
-
-
79953062931
-
Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma
-
Morris MR, Ricketts CJ, Gentle D, McRonald F, Carli N, Khalili H, Brown M, Kishida T, Yao M, Banks RE, Clarke N, Latif F, Maher ER. 2011. Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma. Oncogene 30:1390-1401.
-
(2011)
Oncogene
, vol.30
, pp. 1390-1401
-
-
Morris, M.R.1
Ricketts, C.J.2
Gentle, D.3
McRonald, F.4
Carli, N.5
Khalili, H.6
Brown, M.7
Kishida, T.8
Yao, M.9
Banks, R.E.10
Clarke, N.11
Latif, F.12
Maher, E.R.13
-
45
-
-
0027482126
-
Cytogenetic homogeneity in eight independent sites in a case of malignant melanoma
-
Morse HG, Moore GE. 1993. Cytogenetic homogeneity in eight independent sites in a case of malignant melanoma. Cancer Genet Cytogenet 69:108-112.
-
(1993)
Cancer Genet Cytogenet
, vol.69
, pp. 108-112
-
-
Morse, H.G.1
Moore, G.E.2
-
46
-
-
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
-
47
-
-
0028002296
-
Constructing a protein mutant database
-
Nishikawa K, Ishino S, Takenaka H, Norioka N, Hirai T, Yao T, Seto Y. 1994. Constructing a protein mutant database. Protein Eng 7:733.
-
(1994)
Protein Eng
, vol.7
, pp. 733
-
-
Nishikawa, K.1
Ishino, S.2
Takenaka, H.3
Norioka, N.4
Hirai, T.5
Yao, T.6
Seto, Y.7
-
48
-
-
33751011339
-
Immunodeficiency mutation databases (IDbases)
-
Piirilä H, Valiäho J, Vihinen M. 2006. Immunodeficiency mutation databases (IDbases). Hum Mutat 27:1200-1208.
-
(2006)
Hum Mutat
, vol.27
, pp. 1200-1208
-
-
Piirilä, H.1
Valiäho, J.2
Vihinen, M.3
-
49
-
-
74449093973
-
A comprehensive catalogue of somatic mutations from a human cancer genome
-
Pleasance ED, Cheetham RK, Stephens PJ, McBride DJ, Humphray SJ, Greenman CD, Varela I, Lin ML, Ordonez GR, Bignell GR, Ye K, Alipaz J, et al. 2010. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 463:191-196.
-
(2010)
Nature
, vol.463
, pp. 191-196
-
-
Pleasance, E.D.1
Cheetham, R.K.2
Stephens, P.J.3
McBride, D.J.4
Humphray, S.J.5
Greenman, C.D.6
Varela, I.7
Lin, M.L.8
Ordonez, G.R.9
Bignell, G.R.10
Ye, K.11
Alipaz, J.12
-
50
-
-
56349092327
-
Standard errors for bagged and random forest estimators
-
Sexton J, Laake P. 2009. Standard errors for bagged and random forest estimators. Comput Stat Data Anal 53:801.
-
(2009)
Comput Stat Data Anal
, vol.53
, pp. 801
-
-
Sexton, J.1
Laake, P.2
-
51
-
-
0035173378
-
dbSNP: the NCBI database of genetic variation
-
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. 2001. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 29:308-311.
-
(2001)
Nucleic Acids Res
, vol.29
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.H.2
Kholodov, M.3
Baker, J.4
Phan, L.5
Smigielski, E.M.6
Sirotkin, K.7
-
53
-
-
33749993417
-
The consensus coding sequences of human breast and colorectal cancers
-
Sjöblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, et al. 2006. The consensus coding sequences of human breast and colorectal cancers. Science 314:268-274.
-
(2006)
Science
, vol.314
, pp. 268-274
-
-
Sjöblom, T.1
Jones, S.2
Wood, L.D.3
Parsons, D.W.4
Lin, J.5
Barber, T.D.6
Mandelker, D.7
Leary, R.J.8
Ptak, J.9
Silliman, N.10
Szabo, S.11
Buckhaults, P.12
-
54
-
-
77953446523
-
The human gene mutation database: 2008 update
-
Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN. 2009. The human gene mutation database: 2008 update. Genome Med 1:13.
-
(2009)
Genome Med
, vol.1
, pp. 13
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
Howells, K.4
Phillips, A.D.5
Thomas, N.S.6
Cooper, D.N.7
-
55
-
-
22244437614
-
Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity
-
Stone EA, Sidow A. 2005. Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res 15:978-986.
-
(2005)
Genome Res
, vol.15
, pp. 978-986
-
-
Stone, E.A.1
Sidow, A.2
-
56
-
-
70350270028
-
The proprotein convertase PC5/6 is protective against intestinal tumorigenesis: in vivo mouse model
-
Sun X, Essalmani R, Seidah NG, Prat A. 2009. The proprotein convertase PC5/6 is protective against intestinal tumorigenesis: in vivo mouse model. Mol Cancer 8:73.
-
(2009)
Mol Cancer
, vol.8
, pp. 73
-
-
Sun, X.1
Essalmani, R.2
Seidah, N.G.3
Prat, A.4
-
57
-
-
79952764520
-
Performance of mutation pathogenicity prediction methods on missense variants
-
Thusberg J, Olatubosun A, Vihinen M. 2011. Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 32:358-368.
-
(2011)
Hum Mutat
, vol.32
, pp. 358-368
-
-
Thusberg, J.1
Olatubosun, A.2
Vihinen, M.3
-
58
-
-
65649108490
-
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods
-
Thusberg J, Vihinen M. 2009. Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods. Hum Mutat 30:703-714.
-
(2009)
Hum Mutat
, vol.30
, pp. 703-714
-
-
Thusberg, J.1
Vihinen, M.2
-
59
-
-
78651319979
-
Ongoing and future developments at the universal protein resource
-
UniProt Consortium
-
UniProt Consortium. 2011. Ongoing and future developments at the universal protein resource. Nucleic Acids Res 39:D214-D219.
-
(2011)
Nucleic Acids Res
, vol.39
-
-
-
60
-
-
84872220766
-
How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis
-
Vihinen M. How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis. BMC Genomics (in press).
-
BMC Genomics
-
-
Vihinen, M.1
-
61
-
-
79957594872
-
Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma
-
NISC Comparative Sequencing Program
-
Wei X, Moncada-Pazos A, Cal S, Soria-Valles C, Gartner J, Rudloff U, Lin JC, NISC Comparative Sequencing Program, Rosenberg SA, Lopez-Otin C, Samuels Y. 2011. Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma. Hum Mutat 32:E2148-75.
-
(2011)
Hum Mutat
, vol.32
-
-
Wei, X.1
Moncada-Pazos, A.2
Cal, S.3
Soria-Valles, C.4
Gartner, J.5
Rudloff, U.6
Lin, J.C.7
Rosenberg, S.A.8
Lopez-Otin, C.9
Samuels, Y.10
-
62
-
-
77953602809
-
Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase
-
Wei Q, Wang L, Wang Q, Kruger WD, Dunbrack RL Jr. 2010. Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase. Proteins 78:2058-2074.
-
(2010)
Proteins
, vol.78
, pp. 2058-2074
-
-
Wei, Q.1
Wang, L.2
Wang, Q.3
Kruger, W.D.4
Dunbrack Jr., R.J.5
-
63
-
-
50549104987
-
Oncogenic BRAF regulates melanoma proliferation through the lineage specific factor MITF
-
Wellbrock C, Rana S, Paterson H, Pickersgill H, Brummelkamp T, Marais R. 2008. Oncogenic BRAF regulates melanoma proliferation through the lineage specific factor MITF. PLoS One 3:e2734.
-
(2008)
PLoS One
, vol.3
-
-
Wellbrock, C.1
Rana, S.2
Paterson, H.3
Pickersgill, H.4
Brummelkamp, T.5
Marais, R.6
-
64
-
-
0026692226
-
Stacked generalization
-
Wolpert DH. 1992. Stacked generalization. Neural Networks 5:241-259.
-
(1992)
Neural Networks
, vol.5
, pp. 241-259
-
-
Wolpert, D.H.1
-
65
-
-
80052062312
-
SCUBE3 is an endogenous TGF-beta receptor ligand and regulates the epithelial-mesenchymal transition in lung cancer
-
Wu YY, Peck K, Chang YL, Pan SH, Cheng YF, Lin JC, Yang RB, Hong TM, Yang PC. 2011. SCUBE3 is an endogenous TGF-beta receptor ligand and regulates the epithelial-mesenchymal transition in lung cancer. Oncogene 30:3682-3693.
-
(2011)
Oncogene
, vol.30
, pp. 3682-3693
-
-
Wu, Y.Y.1
Peck, K.2
Chang, Y.L.3
Pan, S.H.4
Cheng, Y.F.5
Lin, J.C.6
Yang, R.B.7
Hong, T.M.8
Yang, P.C.9
-
66
-
-
2342596530
-
The swiss-prot variant page and the ModSNP database: a resource for sequence and structure information on human protein variants
-
Yip YL, Scheib H, Diemand AV, Gattiker A, Famiglietti LM, Gasteiger E, Bairoch A. 2004. The swiss-prot variant page and the ModSNP database: a resource for sequence and structure information on human protein variants. Hum Mutat 23:464-470.
-
(2004)
Hum Mutat
, vol.23
, pp. 464-470
-
-
Yip, Y.L.1
Scheib, H.2
Diemand, A.V.3
Gattiker, A.4
Famiglietti, L.M.5
Gasteiger, E.6
Bairoch, A.7
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