-
1
-
-
0035865322
-
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
-
Sachidanandam R, Weissman D, Schmidt S, Kakol J, Stein L, Marth G, Sherry S, et al: A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001, 409(6822):928-933
-
(2001)
Nature
, vol.409
, Issue.6822
, pp. 928-933
-
-
Sachidanandam, R.1
Weissman, D.2
Schmidt, S.3
Kakol, J.4
Stein, L.5
Marth, G.6
Sherry, S.7
-
2
-
-
0031092272
-
The Human Gene Mutation Database
-
Krawczak M, Cooper D: The Human Gene Mutation Database. Trends in Genetics 1997, 13:121-122
-
(1997)
Trends in Genetics
, vol.13
, pp. 121-122
-
-
Krawczak, M.1
Cooper, D.2
-
3
-
-
0031865670
-
The Androgen Receptor Gene Mutations Database
-
Gottlieb B, Lehvaslaiho H, Beitel L, Lumbroso R, Pinksy L, Trifiro M: The Androgen Receptor Gene Mutations Database. Nucleic Acids Research 1998, 26:234-238
-
(1998)
Nucleic Acids Research
, vol.26
, pp. 234-238
-
-
Gottlieb, B.1
Lehvaslaiho, H.2
Beitel, L.3
Lumbroso, R.4
Pinksy, L.5
Trifiro, M.6
-
4
-
-
0030789557
-
The Human Type I Collagen Mutation Database
-
Dalgleish R: The Human Type I Collagen Mutation Database. Nucleic Acids Research 1997, 25:181-187
-
(1997)
Nucleic Acids Research
, vol.25
, pp. 181-187
-
-
Dalgleish, R.1
-
5
-
-
0035895505
-
The Sequence of the Human Genome
-
Venter J, Adams M, MW E, Li P, Mural R, Sutton G, Smith H, et al: The Sequence of the Human Genome. Science 2001, 291:1304
-
(2001)
Science
, vol.291
, pp. 1304
-
-
Venter, J.1
Adams, M.2
Adams, M.W.E.3
Li, P.4
Mural, R.5
Sutton, G.6
Smith, H.7
-
6
-
-
0033824488
-
Expression-based Genetic/Physical Maps of Single-Nucleotide Polymorphisms Identified by the Cancer Genome Anatomy Project
-
Clifford R, Edmonson M, Hu Y, Nguyen C, Scherpbier T, Beutow K: Expression-based Genetic/Physical Maps of Single-Nucleotide Polymorphisms Identified by the Cancer Genome Anatomy Project. Genome Research 2000, 10:1259-1265
-
(2000)
Genome Research
, vol.10
, pp. 1259-1265
-
-
Clifford, R.1
Edmonson, M.2
Hu, Y.3
Nguyen, C.4
Scherpbier, T.5
Beutow, K.6
-
7
-
-
0031984056
-
DNA Variation And THe Future Of Human Genetics
-
Schafer A, Hawkins J: DNA Variation And THe Future Of Human Genetics. Nature Biotechnology 1998, 16:33-39
-
(1998)
Nature Biotechnology
, vol.16
, pp. 33-39
-
-
Schafer, A.1
Hawkins, J.2
-
8
-
-
0030688004
-
Variations On A Theme: Cataloging Human DNA Sequence Variation
-
Collins F, Guyer M, Chakravarti A: Variations On A Theme: Cataloging Human DNA Sequence Variation. Science 1997, 278:1580-1581
-
(1997)
Science
, vol.278
, pp. 1580-1581
-
-
Collins, F.1
Guyer, M.2
Chakravarti, A.3
-
9
-
-
0021943341
-
An Estimate of Unique DNA Sequence Heterozygosity In The Human Genome
-
Cooper D, Smith B, Cooke H, Niemann S, Schmidtke J: An Estimate of Unique DNA Sequence Heterozygosity In The Human Genome. Human Genetics 1995, 69:201-205
-
(1995)
Human Genetics
, vol.69
, pp. 201-205
-
-
Cooper, D.1
Smith, B.2
Cooke, H.3
Niemann, S.4
Schmidtke, J.5
-
10
-
-
0032190991
-
Evolution of the Androgen Receptor: Structure Function Implications
-
Thornton J, Kelley D: Evolution of the Androgen Receptor: Structure Function Implications. Bioessays 1998, 20:860-869
-
(1998)
Bioessays
, vol.20
, pp. 860-869
-
-
Thornton, J.1
Kelley, D.2
-
11
-
-
0032231701
-
Neighboring-Nucleotide Effects on the Rates of Germ-Line Single-Base-Pair Substitution in Human Genes
-
Krawczak M, Edward B, Cooper D: Neighboring-Nucleotide Effects on the Rates of Germ-Line Single-Base-Pair Substitution in Human Genes. American Journal of Human Genetics 1998, 63:474-488
-
(1998)
American Journal of Human Genetics
, vol.63
, pp. 474-488
-
-
Krawczak, M.1
Edward, B.2
Cooper, D.3
-
12
-
-
0034255419
-
SNP frequencies in human genes: An excess of rare alleles and differing modes of selection
-
Sunyaev S, Ramensky V, Bork P: SNP frequencies in human genes: an excess of rare alleles and differing modes of selection. Trends in Genetics 2000, 16:335-337
-
(2000)
Trends in Genetics
, vol.16
, pp. 335-337
-
-
Sunyaev, S.1
Ramensky, V.2
Bork, P.3
-
13
-
-
0035937259
-
Predicting the Functional Consequences of Non-synonymous Single Nucleotide Polymorphisms: Structure-based Assessment of Amino Acid Variation
-
Chasman D, Adams R: Predicting the Functional Consequences of Non-synonymous Single Nucleotide Polymorphisms: Structure-based Assessment of Amino Acid Variation. Journal of Molecular Biology 2001, 307:683-706
-
(2001)
Journal of Molecular Biology
, vol.307
, pp. 683-706
-
-
Chasman, D.1
Adams, R.2
-
14
-
-
0035869223
-
Prediction of Deleterious Human Alleles
-
Sunyaev S, Ramensky V, Koch I, Lathe WI, Kondrashov A, Bork P: Prediction of Deleterious Human Alleles. Human Molecular Genetics 2001, 10:591-597
-
(2001)
Human Molecular Genetics
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe, W.I.4
Kondrashov, A.5
Bork, P.6
-
15
-
-
0035065485
-
SNPs, Protein Structure, and Disease
-
Wang Z, Moult J: SNPs, Protein Structure, and Disease. Human Mutation 2001, 17:263-270
-
(2001)
Human Mutation
, vol.17
, pp. 263-270
-
-
Wang, Z.1
Moult, J.2
-
16
-
-
0035026704
-
Prediting Deleterious Amino Acid Substitutions
-
Ng P, Henikoff S: Prediting Deleterious Amino Acid Substitutions. Genome Research 2001, 11:863-874
-
(2001)
Genome Research
, vol.11
, pp. 863-874
-
-
Ng, P.1
Henikoff, S.2
-
17
-
-
0036119504
-
Accounting for Human Polymorphisms Predicted to Affect Protein Function
-
Ng P, Henikoff S: Accounting for Human Polymorphisms Predicted to Affect Protein Function. Genome Research 2002, 12:436-446
-
(2002)
Genome Research
, vol.12
, pp. 436-446
-
-
Ng, P.1
Henikoff, S.2
-
18
-
-
0028848589
-
Mouse Brca1: Localization Sequence Analysis and Identification of Evolutionary Conserved Domains
-
Abel K, Xu J, Yin G, Lyons R, Meisler M, Weber B: Mouse Brca1: Localization Sequence Analysis and Identification of Evolutionary Conserved Domains. Human Molecular Genetics 1995, 4:2265-2273
-
(1995)
Human Molecular Genetics
, vol.4
, pp. 2265-2273
-
-
Abel, K.1
Xu, J.2
Yin, G.3
Lyons, R.4
Meisler, M.5
Weber, B.6
-
19
-
-
17344362372
-
Isolation and Chromosomal Localization of a Cornea-Specific Human Keratin 12 Gene and Detection of Four Mutations in Meesmann Corneal Epithelial Dystrophy
-
Nishida K, Honma Y, Dota A, Kawasaki S, Adachi W, Nakamura T, Quantock A, et al: Isolation and Chromosomal Localization of a Cornea-Specific Human Keratin 12 Gene and Detection of Four Mutations in Meesmann Corneal Epithelial Dystrophy. American Journal of Human Genetics 1997, 61:1268-1275
-
(1997)
American Journal of Human Genetics
, vol.61
, pp. 1268-1275
-
-
Nishida, K.1
Honma, Y.2
Dota, A.3
Kawasaki, S.4
Adachi, W.5
Nakamura, T.6
Quantock, A.7
-
20
-
-
0033012815
-
Perturbational Effects of Amino Acid Substitutions in the DNA-binding Domain of p53
-
Wacey A, Cooper D, Liney D, Hovig E, Krawczak M: Perturbational Effects of Amino Acid Substitutions in the DNA-binding Domain of p53. Human Genetics 1999, 104(1):15-22
-
(1999)
Human Genetics
, vol.104
, Issue.1
, pp. 15-22
-
-
Wacey, A.1
Cooper, D.2
Liney, D.3
Hovig, E.4
Krawczak, M.5
-
21
-
-
0035504763
-
Understanding human disease mutations through the use of interspecific genetic variation
-
Miller M, Kumar S: Understanding human disease mutations through the use of interspecific genetic variation. Human Molecular Genetics 2001, 10:2319-2328
-
(2001)
Human Molecular Genetics
, vol.10
, pp. 2319-2328
-
-
Miller, M.1
Kumar, S.2
-
23
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander E, Linton L, Birren B, Nusbaum C, Zody M, Baldwin J, Devon K, et al: Initial sequencing and analysis of the human genome. Nature 2002, 409:860-921
-
(2002)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.1
Linton, L.2
Birren, B.3
Nusbaum, C.4
Zody, M.5
Baldwin, J.6
Devon, K.7
-
24
-
-
0030801002
-
Gapped BLAST and PSI-BLAST: A New Generation Of Protein Database Search Tools
-
Altschul S, Madden T, Schaffer A, Zhang J, Zhang Z, Miller W, Lipman D: Gapped BLAST and PSI-BLAST: A New Generation Of Protein Database Search Tools. Nucleic Acids Research 1997, 25:3389-3402
-
(1997)
Nucleic Acids Research
, vol.25
, pp. 3389-3402
-
-
Altschul, S.1
Madden, T.2
Schaffer, A.3
Zhang, J.4
Zhang, Z.5
Miller, W.6
Lipman, D.7
-
25
-
-
0027968068
-
CLUSTAL W: Improving The Sensitivity Of Progressive Multiple Sequence Alignment Through Sequence Weighting, Positions-specific Penalties and Weight Matrix Choice
-
Thompson J, Higgins D, Gibson T: CLUSTAL W: Improving The Sensitivity Of Progressive Multiple Sequence Alignment Through Sequence Weighting, Positions-specific Penalties and Weight Matrix Choice. Nucleic Acids Research 1994, 22:4673-4680
-
(1994)
Nucleic Acids Research
, vol.22
, pp. 4673-4680
-
-
Thompson, J.1
Higgins, D.2
Gibson, T.3
-
26
-
-
0026342532
-
Information-theoretical Entropy As A Measure Of Sequence Variability
-
Shenkin P, Erman B, Mastrandrea L: Information-theoretical Entropy As A Measure Of Sequence Variability. Proteins 1991, 11:297-313
-
(1991)
Proteins
, vol.11
, pp. 297-313
-
-
Shenkin, P.1
Erman, B.2
Mastrandrea, L.3
|