-
1
-
-
1542563409
-
Initial sequencing and comparative analysis of the mouse genome
-
Mouse Genome Sequencing Consortium. Initial sequencing and comparative analysis of the mouse genome. Nature 420, 520-562 (2002).
-
(2002)
Nature
, vol.420
, pp. 520-562
-
-
-
2
-
-
0041465867
-
Comparative analyses of multi-species sequences from targeted genomic regions
-
Thomas, J.W. et al. Comparative analyses of multi-species sequences from targeted genomic regions. Nature 424, 788-793 (2003).
-
(2003)
Nature
, vol.424
, pp. 788-793
-
-
Thomas, J.W.1
-
3
-
-
0242662461
-
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)
-
Dermitzakis, E.T. et al. Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs). Science 302, 1033-1035 (2003).
-
(2003)
Science
, vol.302
, pp. 1033-1035
-
-
Dermitzakis, E.T.1
-
4
-
-
13144295005
-
Conserved non-genic sequences - An unexpected feature of mammalian genomes
-
Dermitzakis, E.T., Reymond, A. & Antonarakis, S.E. Conserved non-genic sequences - an unexpected feature of mammalian genomes. Nat. Rev. Genet. 6, 151-157 (2005).
-
(2005)
Nat. Rev. Genet.
, vol.6
, pp. 151-157
-
-
Dermitzakis, E.T.1
Reymond, A.2
Antonarakis, S.E.3
-
5
-
-
0034616398
-
Identification of a coordinate regulator of interleukins 4, 13, and 5 by cross-species sequence comparisons
-
Loots, G.G. et al. Identification of a coordinate regulator of interleukins 4, 13, and 5 by cross-species sequence comparisons. Science 288, 136-140 (2000).
-
(2000)
Science
, vol.288
, pp. 136-140
-
-
Loots, G.G.1
-
6
-
-
20044366725
-
Highly conserved non-coding sequences are associated with vertebrate development
-
Woolfe, A. et al. Highly conserved non-coding sequences are associated with vertebrate development. PLoS Biol. 3, e7 (2005).
-
(2005)
PLoS Biol.
, vol.3
-
-
Woolfe, A.1
-
7
-
-
1542347048
-
Noncoding sequences conserved in a limited number of mammals in the SIM2 interval are frequently functional
-
Frazer, K.A. et al. Noncoding sequences conserved in a limited number of mammals in the SIM2 interval are frequently functional. Genome Res. 14, 367-372 (2004).
-
(2004)
Genome Res.
, vol.14
, pp. 367-372
-
-
Frazer, K.A.1
-
8
-
-
7244259100
-
Megabase deletions of gene deserts result in viable mice
-
Nobrega, M.A., Zhu, Y., Plajzer-Frick, I., Afzal, V. & Rubin, E.M. Megabase deletions of gene deserts result in viable mice. Nature 431, 988-993 (2004).
-
(2004)
Nature
, vol.431
, pp. 988-993
-
-
Nobrega, M.A.1
Zhu, Y.2
Plajzer-Frick, I.3
Afzal, V.4
Rubin, E.M.5
-
9
-
-
0035865322
-
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
-
The International SNP Map Working Group. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409, 928-933 (2001).
-
(2001)
Nature
, vol.409
, pp. 928-933
-
-
-
10
-
-
26444606420
-
Small fitness effect of mutations in highly conserved non-coding regions
-
Kryukov, G.V., Schmidt, S. & Sunyaev, S. Small fitness effect of mutations in highly conserved non-coding regions. Hum. Mol. Genet. 14, 2221-2229 (2005).
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 2221-2229
-
-
Kryukov, G.V.1
Schmidt, S.2
Sunyaev, S.3
-
11
-
-
0034924997
-
Positive and negative selection on the human genome
-
Fay, J.C., Wyckoff, G.J. & Wu, C.I. Positive and negative selection on the human genome. Genetics 158, 1227-1234 (2001).
-
(2001)
Genetics
, vol.158
, pp. 1227-1234
-
-
Fay, J.C.1
Wyckoff, G.J.2
Wu, C.I.3
-
12
-
-
79959524146
-
A haplotype map of the human genome
-
International HapMap Consortium. A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
13
-
-
0022352290
-
Population bottlenecks and nonequilibrium models in population genetics. II. Number of alleles in a small population that was formed by a recent bottleneck
-
Maruyama, T. & Fuerst, P.A. Population bottlenecks and nonequilibrium models in population genetics. II. Number of alleles in a small population that was formed by a recent bottleneck. Genetics 111, 675-689 (1985).
-
(1985)
Genetics
, vol.111
, pp. 675-689
-
-
Maruyama, T.1
Fuerst, P.A.2
-
14
-
-
1642282195
-
The allele frequency spectrum in genome-wide human variation data reveals signals of differential demographic history in three large world populations
-
Marth, G.T., Czabarka, E., Murvai, J. & Sherry, S.T. The allele frequency spectrum in genome-wide human variation data reveals signals of differential demographic history in three large world populations. Genetics 166, 351-372 (2004).
-
(2004)
Genetics
, vol.166
, pp. 351-372
-
-
Marth, G.T.1
Czabarka, E.2
Murvai, J.3
Sherry, S.T.4
-
15
-
-
25844469247
-
Evolutionary constraints in conserved nongenic sequences of mammals
-
Keightley, P.D., Kryukov, G.V., Sunyaev, S., Halligan, D.L. & Gaffney, D.J. Evolutionary constraints in conserved nongenic sequences of mammals. Genome Res. 15, 1373-1378 (2005).
-
(2005)
Genome Res.
, vol.15
, pp. 1373-1378
-
-
Keightley, P.D.1
Kryukov, G.V.2
Sunyaev, S.3
Halligan, D.L.4
Gaffney, D.J.5
-
16
-
-
0032991552
-
Characterization of single-nucleotide polymorphisms in coding regions of human genes
-
Cargill, M. et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat. Genet. 22, 231-238 (1999).
-
(1999)
Nat. Genet.
, vol.22
, pp. 231-238
-
-
Cargill, M.1
-
17
-
-
0027305597
-
The effect of deleterious mutations on neutral molecular variation
-
Charlesworth, B., Morgan, M.T. & Charlesworth, D. The effect of deleterious mutations on neutral molecular variation. Genetics 134, 1289-1303 (1993).
-
(1993)
Genetics
, vol.134
, pp. 1289-1303
-
-
Charlesworth, B.1
Morgan, M.T.2
Charlesworth, D.3
-
18
-
-
2442695243
-
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment
-
Dermitzakis, E.T. et al. Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment. Genome Res. 14, 852-859 (2004).
-
(2004)
Genome Res.
, vol.14
, pp. 852-859
-
-
Dermitzakis, E.T.1
-
19
-
-
24344500211
-
Initial sequence of the chimpanzee genome and comparison with the human genome
-
Chimpanzee Sequencing and Analysis Consortium. Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437, 69-87 (2005).
-
(2005)
Nature
, vol.437
, pp. 69-87
-
-
-
20
-
-
2542542256
-
Ultraconserved elements in the human genome
-
Bejerano, G. et al. Ultraconserved elements in the human genome. Science 304, 1321-1325 (2004).
-
(2004)
Science
, vol.304
, pp. 1321-1325
-
-
Bejerano, G.1
-
21
-
-
10744222156
-
Identification and characterization of multi-species conserved sequences
-
Margulies, E.H., Blanchette, M., Haussler, D. & Green, E.D. Identification and characterization of multi-species conserved sequences. Genome Res. 13, 2507-2518 (2003).
-
(2003)
Genome Res.
, vol.13
, pp. 2507-2518
-
-
Margulies, E.H.1
Blanchette, M.2
Haussler, D.3
Green, E.D.4
-
22
-
-
15744388330
-
Evidence for widespread degradation of gene control regions in hominid genomes
-
Keightley, P.D., Lercher, M.J. & Eyre-Walker, A. Evidence for widespread degradation of gene control regions in hominid genomes. PLoS Biol. 3, e42 (2005).
-
(2005)
PLoS Biol.
, vol.3
-
-
Keightley, P.D.1
Lercher, M.J.2
Eyre-Walker, A.3
-
23
-
-
0036087166
-
JSNP: A database of common gene variations in the Japanese population
-
Hirakawa, M. et al. JSNP: a database of common gene variations in the Japanese population. Nucleic Acids Res. 30, 158-162 (2002).
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 158-162
-
-
Hirakawa, M.1
-
24
-
-
0037373275
-
Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
-
Botstein, D. & Risch, N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat. Genet. 33 (Suppl.), 228-237 (2003).
-
(2003)
Nat. Genet.
, vol.33
, Issue.SUPPL.
, pp. 228-237
-
-
Botstein, D.1
Risch, N.2
-
25
-
-
22544447060
-
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome
-
Beysen, D. et al. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am. J. Hum. Genet. 77, 205-218 (2005).
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 205-218
-
-
Beysen, D.1
-
26
-
-
17244383525
-
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
-
Emison, E.S. et al. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 434, 857-863 (2005).
-
(2005)
Nature
, vol.434
, pp. 857-863
-
-
Emison, E.S.1
-
27
-
-
15244358503
-
Systematic discovery of regulatory motifs in human promoters and 3′ UTRs by comparison of several mammals
-
Xie, X. et al. Systematic discovery of regulatory motifs in human promoters and 3′ UTRs by comparison of several mammals. Nature 434, 338-345 (2005).
-
(2005)
Nature
, vol.434
, pp. 338-345
-
-
Xie, X.1
-
28
-
-
23744493161
-
Evaluation of regulatory potential and conservation scores for detecting cis-regulatory modules in aligned mammalian genome sequences
-
King, D.C. et al. Evaluation of regulatory potential and conservation scores for detecting cis-regulatory modules in aligned mammalian genome sequences. Genome Res. 15, 1051-1060 (2005).
-
(2005)
Genome Res.
, vol.15
, pp. 1051-1060
-
-
King, D.C.1
-
29
-
-
23744458086
-
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
-
Siepel, A. et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 15, 1034-1050 (2005).
-
(2005)
Genome Res.
, vol.15
, pp. 1034-1050
-
-
Siepel, A.1
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