-
1
-
-
0037373275
-
Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
-
Botstein,D. and Risch,N. (2003) Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nature Genet., S33, 228-237.
-
(2003)
Nature Genet.
, vol.S33
, pp. 228-237
-
-
Botstein, D.1
Risch, N.2
-
2
-
-
0033985936
-
Online Mendelian Inheritance in Man (OMIM)
-
Hamosh,A., Scott,A.F., Amberger,J., Valle,D. and McKusick,V.A. (2000) Online Mendelian Inheritance in Man (OMIM). Hum. Mutat., 15, 57-61.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 57-61
-
-
Hamosh, A.1
Scott, A.F.2
Amberger, J.3
Valle, D.4
McKusick, V.A.5
-
3
-
-
0033967692
-
Introducing RefSeq and LocusLink: Curated human genome resources at the NCBI
-
Pruitt,K.D., Katz,K.S., Sicotte,H. and Maglott,D.R. (2000) Introducing RefSeq and LocusLink: curated human genome resources at the NCBI. Trends Genet., 16, 44-47.
-
(2000)
Trends Genet.
, vol.16
, pp. 44-47
-
-
Pruitt, K.D.1
Katz, K.S.2
Sicotte, H.3
Maglott, D.R.4
-
4
-
-
0033987778
-
Human gene mutation database-a biomedical information and research resource
-
Krawczak,M., Ball,E.V., Fenton,I., Stenson,P.D., Abeysinghe,S., Thomas,N. and Cooper,D.N. (2000) Human gene mutation database-a biomedical information and research resource. Hum. Mutat., 15, 45-51.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 45-51
-
-
Krawczak, M.1
Ball, E.V.2
Fenton, I.3
Stenson, P.D.4
Abeysinghe, S.5
Thomas, N.6
Cooper, D.N.7
-
5
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander,E.S., Linton,L.M., Birren,B., Nusbaum,C., Zody,M.C., Baldwin,J., Devon,K., Dewar,K., Doyle,M., FitzHugh,W. et al. (2001) Initial sequencing and analysis of the human genome. Nature, 409, 860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
Baldwin, J.6
Devon, K.7
Dewar, K.8
Doyle, M.9
FitzHugh, W.10
-
6
-
-
0035161543
-
Genomes OnLine Database (GOLD): A monitor of genome projects world-wide
-
Bernal,A., Ear,U. and Kyrpides,N. (2001) Genomes OnLine Database (GOLD): a monitor of genome projects world-wide. Nucleic Acids Res., 29, 126-127.
-
(2001)
Nucleic Acids Res.
, vol.29
, pp. 126-127
-
-
Bernal, A.1
Ear, U.2
Kyrpides, N.3
-
7
-
-
0037255072
-
The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003
-
Boeckmann,B., Bairoch,A., Apweiler,R., Blatter,M.C., Estreicher,A., Gasteiger,E., Martin,M.J., Michoud,K., O'Donovan,C.. Phan,I. et al. (2003) The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003. Nucleic Acids Res., 31, 365-370.
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 365-370
-
-
Boeckmann, B.1
Bairoch, A.2
Apweiler, R.3
Blatter, M.C.4
Estreicher, A.5
Gasteiger, E.6
Martin, M.J.7
Michoud, K.8
O'Donovan, C.9
Phan, I.10
-
8
-
-
0035865078
-
Human disease genes
-
Jimenez-Sanchez,G., Childs,B. and Valle,D. (2001) Human disease genes. Nature, 409, 853-855.
-
(2001)
Nature
, vol.409
, pp. 853-855
-
-
Jimenez-Sanchez, G.1
Childs, B.2
Valle, D.3
-
9
-
-
0037039436
-
Amino acid runs in eukaryotic proteomes and disease associations
-
Karlin,S., Brocchieri,L., Bergman,A., Mrazek,J. and Gentles,A.J. (2002) Amino acid runs in eukaryotic proteomes and disease associations. Proc. Natl Acad. Sci. USA, 99, 333-138.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 333-338
-
-
Karlin, S.1
Brocchieri, L.2
Bergman, A.3
Mrazek, J.4
Gentles, A.J.5
-
10
-
-
0035162594
-
RefSeq and LocusLink: NCBI gene-centered resources
-
Pruitt,K.D. and Maglott,D.R. (2001) RefSeq and LocusLink: NCBI gene-centered resources. Nucleic Acids Res., 29, 137-140.
-
(2001)
Nucleic Acids Res.
, vol.29
, pp. 137-140
-
-
Pruitt, K.D.1
Maglott, D.R.2
-
11
-
-
18444402182
-
The Ensemb1 genome database project
-
Hubbard,T., Barker,D., Birney,E., Cameron,G., Chen,Y., Clark,L., Cox,T., Cuff,J., Curwen,V., Down,T. et al. (2002) The Ensemb1 genome database project. Nucleic Acids Res., 30, 38-41.
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 38-41
-
-
Hubbard, T.1
Barker, D.2
Birney, E.3
Cameron, G.4
Chen, Y.5
Clark, L.6
Cox, T.7
Cuff, J.8
Curwen, V.9
Down, T.10
-
12
-
-
0042594458
-
COmplete GENome Tracking (COGENT): A flexible data enviroment for computationa genomics
-
Janssen,P.J., Enright,A.J., Audit,B., Cases,I., Goldovsky,L., Harte,N., Kunin,V. and Ouzounis,C.A. (2003) COmplete GENome Tracking (COGENT): a flexible data enviroment for computationa genomics. Bioinformatics, 19, 1451-1452.
-
(2003)
Bioinformatics
, vol.19
, pp. 1451-1452
-
-
Janssen, P.J.1
Enright, A.J.2
Audit, B.3
Cases, I.4
Goldovsky, L.5
Harte, N.6
Kunin, V.7
Ouzounis, C.A.8
-
13
-
-
0030801002
-
Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
-
Altschul,S.F., Madden,T.L., Schaffer,A.A., Zhang,J., Zhang,Z., Miller,W. and Lipman,D.J. (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res., 25, 3389-3402.
-
(1997)
Nucleic Acids Res.
, vol.25
, pp. 3389-3402
-
-
Altschul, S.F.1
Madden, T.L.2
Schaffer, A.A.3
Zhang, J.4
Zhang, Z.5
Miller, W.6
Lipman, D.J.7
-
14
-
-
0037350415
-
The phylogenetic extent of metabolic enzymes and pathways
-
Peregrin-Alvarez,J.M., Tsoka,S. and Ouzounis,C.A. (2003) The phylogenetic extent of metabolic enzymes and pathways. Genome Res., 13, 422-427.
-
(2003)
Genome Res.
, vol.13
, pp. 422-427
-
-
Peregrin-Alvarez, J.M.1
Tsoka, S.2
Ouzounis, C.A.3
-
15
-
-
0033551248
-
Assigning protein functions by comparative genome analysis: Protein phylogenetic profiles
-
Pellegrini,M., Marcotte,E.M., Thompson,M.J., Eisenberg,D. and Yeates,T.O. (1999) Assigning protein functions by comparative genome analysis: protein phylogenetic profiles. Proc. Natl Acad. Sci. USA, 96, 4285-4288.
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 4285-4288
-
-
Pellegrini, M.1
Marcotte, E.M.2
Thompson, M.J.3
Eisenberg, D.4
Yeates, T.O.5
-
16
-
-
0033638015
-
CAST: An iterative algorithm for the complexity analysis of sequence tracts. Complexity analysis of sequence tracts
-
Promponas,V.J., Enright,A.J., Tsoka,S., Kreil,D.P., Leroy,C., Hamodrakas,S., Sander,C. and Ouzounis,C.A. (2000) CAST: an iterative algorithm for the complexity analysis of sequence tracts. Complexity analysis of sequence tracts. Bioinformatics, 16, 915-922.
-
(2000)
Bioinformatics
, vol.16
, pp. 915-922
-
-
Promponas, V.J.1
Enright, A.J.2
Tsoka, S.3
Kreil, D.P.4
Leroy, C.5
Hamodrakas, S.6
Sander, C.7
Ouzounis, C.A.8
-
17
-
-
0000210889
-
Data mining using MLC++: A machine learning library in C++
-
Kohavi,R., Sommereld,D. and Dougherty,J. (1997) Data mining using MLC++: A machine learning library in C++. Int. J. Artif. Intell. Tools, 6, 537-566.
-
(1997)
Int. J. Artif. Intell. Tools
, vol.6
, pp. 537-566
-
-
Kohavi, R.1
Sommereld, D.2
Dougherty, J.3
-
18
-
-
85047342259
-
MineSet: An integrated system for data mining
-
Heckerman,D., Mannila,H., Pregibon,D. and Uthurusamy,R. (eds) AAAI Press, CA
-
Brunk,C., Kelly,J. and Kohavi,R. (1997) MineSet: an integrated system for data mining. In Heckerman,D., Mannila,H., Pregibon,D. and Uthurusamy,R. (eds) Proceedings of the Third International Conference on Knowledge Discovery and Data Mining. AAAI Press, CA.
-
(1997)
Proceedings of the Third International Conference on Knowledge Discovery and Data Mining
-
-
Brunk, C.1
Kelly, J.2
Kohavi, R.3
-
19
-
-
0017323923
-
Biochemical evolution
-
Wilson,A.C., Carlson,S.S. and White,T.J. (1977) Biochemical evolution. Annu. Rev. Biochem., 46, 573-639.
-
(1977)
Annu. Rev. Biochem.
, vol.46
, pp. 573-639
-
-
Wilson, A.C.1
Carlson, S.S.2
White, T.J.3
-
20
-
-
0033565762
-
Do essential genes evolve slowly?
-
Hurst,L.D. and Smith,N.G. (1999) Do essential genes evolve slowly? Curr. Biol., 9, 747-750.
-
(1999)
Curr. Biol.
, vol.9
, pp. 747-750
-
-
Hurst, L.D.1
Smith, N.G.2
-
21
-
-
0035963414
-
Protein dispensability and rate of evolution
-
Hirsh,A.E. and Fraser,H.B. (2001) Protein dispensability and rate of evolution. Nature, 411, 1046-1049.
-
(2001)
Nature
, vol.411
, pp. 1046-1049
-
-
Hirsh, A.E.1
Fraser, H.B.2
-
22
-
-
0036078078
-
Essential genes are more evolutionarily conserved than are nonessential genes in bacteria
-
Jordan,I.K., Rogozin,I.B., Wolf,Y.I. and Koonin,E.V. (2002) Essential genes are more evolutionarily conserved than are nonessential genes in bacteria. Genome Res., 12, 962-968.
-
(2002)
Genome Res.
, vol.12
, pp. 962-968
-
-
Jordan, I.K.1
Rogozin, I.B.2
Wolf, Y.I.3
Koonin, E.V.4
-
23
-
-
0035504763
-
Understanding human disease mutations through the use of interspecific genetic variation
-
Miller,M.P. and Kumar,S. (2001) Understanding human disease mutations through the use of interspecific genetic variation. Hum. Mol. Genet., 10, 2319-2328.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2319-2328
-
-
Miller, M.P.1
Kumar, S.2
-
24
-
-
0141833160
-
The functional importance of disease-associated mutation
-
Mooney,S.D. and Klein,T.E. (2002) The functional importance of disease-associated mutation. BMC Bioinformatics, 3, 24.
-
(2002)
BMC Bioinformatics
, vol.3
, pp. 24
-
-
Mooney, S.D.1
Klein, T.E.2
-
25
-
-
0347033256
-
Role of duplicate genes in genetic robustness against null mutations
-
Gu,Z., Steinmetz,L.M., Gu,X, Scharfe,C., Davis,R.W. and Li,W.H. (2003) Role of duplicate genes in genetic robustness against null mutations. Nature, 421, 63-66.
-
(2003)
Nature
, vol.421
, pp. 63-66
-
-
Gu, Z.1
Steinmetz, L.M.2
Gu, X.3
Scharfe, C.4
Davis, R.W.5
Li, W.H.6
-
26
-
-
0037656291
-
Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease
-
Hernandez,P.A., Gorlin,R.J., Lukens,J.N., Taniuchi,S., Bohinjec,J., Francois,F., Klotman,M.E. and Diaz,G.A. (2003) Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nature Genet., 34, 70-74.
-
(2003)
Nature Genet.
, vol.34
, pp. 70-74
-
-
Hernandez, P.A.1
Gorlin, R.J.2
Lukens, J.N.3
Taniuchi, S.4
Bohinjec, J.5
Francois, F.6
Klotman, M.E.7
Diaz, G.A.8
-
27
-
-
0038067742
-
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
-
Antonellis,A., Ellsworth,R.E., Sambuughin,N., Puls,I., Abel,A., Lee-Lin,S.Q., Jordanova,A., Kremensky,I., Christodoulou,K., Middleton,L.T. et al. (2003) Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am. J. Hum. Genet., 72, 1293-1299.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1293-1299
-
-
Antonellis, A.1
Ellsworth, R.E.2
Sambuughin, N.3
Puls, I.4
Abel, A.5
Lee-Lin, S.Q.6
Jordanova, A.7
Kremensky, I.8
Christodoulou, K.9
Middleton, L.T.10
-
28
-
-
0036649742
-
Association of genes to genetically inherited diseases using data mining
-
Perez-Iratxeta,C., Bork,P. and Andrade,M.A. (2002) Association of genes to genetically inherited diseases using data mining. Nature Genet., 31, 316-319.
-
(2002)
Nature Genet.
, vol.31
, pp. 316-319
-
-
Perez-Iratxeta, C.1
Bork, P.2
Andrade, M.A.3
-
29
-
-
0037580196
-
A similarity-based method for genome-wide prediction of disease-relevant human genes
-
Freudenberg,J. and Propping,P. (2002) A similarity-based method for genome-wide prediction of disease-relevant human genes. Bioinformatics, 18 (Suppl. 2), S110-S115.
-
(2002)
Bioinformatics
, vol.18
, Issue.SUPPL. 2
-
-
Freudenberg, J.1
Propping, P.2
-
30
-
-
0037265647
-
A new web-based data mining tool for the identification of candidate genes for human genetic disorders
-
Van Driel,M.A., Cuelenaere,K., Kemmeren,P.P., Leunissen,J.A. and Brunner,H.G. (2003) A new web-based data mining tool for the identification of candidate genes for human genetic disorders. Eur. J. Hum. Genet., 11, 57-63.
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, pp. 57-63
-
-
Van Driel, M.A.1
Cuelenaere, K.2
Kemmeren, P.P.3
Leunissen, J.A.4
Brunner, H.G.5
|