-
1
-
-
80054760378
-
Variation in the mutation rate across mammalian genomes
-
Hodgkinson A, Eyre-Walker A (2011) Variation in the mutation rate across mammalian genomes. Nature Reviews Genetics 12: 756-766.
-
(2011)
Nature Reviews Genetics
, vol.12
, pp. 756-766
-
-
Hodgkinson, A.1
Eyre-Walker, A.2
-
3
-
-
24344455529
-
Why do human diversity levels vary at a megabase scale?
-
DOI 10.1101/gr.3461105
-
Hellmann I, Prufer K, Ji H, Zody MC, Paabo S, et al. (2005) Why do human diversity levels vary at a megabase scale? Genome Res 15: 1222-1231. (Pubitemid 41247912)
-
(2005)
Genome Research
, vol.15
, Issue.9
, pp. 1222-1231
-
-
Hellmann, I.1
Prufer, K.2
Ji, H.3
Zody, M.C.4
Paabo, S.5
Ptak, S.E.6
-
4
-
-
83455243192
-
Quantifying the variation in the effective population size within a genome
-
Gossmann TI, Woolfit M, Eyre-Walker A (2011) Quantifying the variation in the effective population size within a genome. Genetics 189: 1389-1402.
-
(2011)
Genetics
, vol.189
, pp. 1389-1402
-
-
Gossmann, T.I.1
Woolfit, M.2
Eyre-Walker, A.3
-
5
-
-
0016220238
-
The hitch-hiking effect of a favourable gene
-
Maynard Smith J, Haigh J (1974) The hitch-hiking effect of a favourable gene. Genet Res 23: 23-35.
-
(1974)
Genet Res
, vol.23
, pp. 23-35
-
-
Maynard Smith, J.1
Haigh, J.2
-
6
-
-
0027305597
-
The effect of deleterious mutations on neutral molecular variation
-
Charlesworth B, Morgan MT, Charlesworth D (1993) The effect of deleterious mutations on neutral molecular variation. Genetics 134: 1289-1303. (Pubitemid 23220050)
-
(1993)
Genetics
, vol.134
, Issue.4
, pp. 1289-1303
-
-
Charlesworth, B.1
Morgan, M.T.2
Charlesworth, D.3
-
7
-
-
60349093708
-
Fundamental concepts in genetics: Effective population size and patterns of molecular evolution and variation
-
Charlesworth B (2009) Fundamental concepts in genetics: effective population size and patterns of molecular evolution and variation. Nat Rev Genet 10: 195-205.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 195-205
-
-
Charlesworth, B.1
-
8
-
-
0242285634
-
Human disease genes: Patterns and predictions
-
DOI 10.1016/S0378-1119(03)00772-8
-
Smith NG, Eyre-Walker A (2003) Human disease genes: patterns and predictions. Gene 318: 169-175. (Pubitemid 37338402)
-
(2003)
Gene
, vol.318
, Issue.1-2
, pp. 169-175
-
-
Smith, N.G.C.1
Eyre-Walker, A.2
-
10
-
-
4844229391
-
Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes
-
Huang H, Winter EE, Wang H, Weinstock KG, Xing H, et al. (2004) Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes. Genome biology 5: R47.
-
(2004)
Genome Biology
, vol.5
-
-
Huang, H.1
Winter, E.E.2
Wang, H.3
Weinstock, K.G.4
Xing, H.5
-
11
-
-
80054754012
-
The large scale distribution of somatic mutations in cancer genomes
-
Hodgkinson A, Chen Y, Eyre-Walker A (2012) The large scale distribution of somatic mutations in cancer genomes. Human Mutation 33: 136-143.
-
(2012)
Human Mutation
, vol.33
, pp. 136-143
-
-
Hodgkinson, A.1
Chen, Y.2
Eyre-Walker, A.3
-
12
-
-
84871595000
-
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation
-
Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, et al. (2012) Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell 151: 1431-1442.
-
(2012)
Cell
, vol.151
, pp. 1431-1442
-
-
Michaelson, J.J.1
Shi, Y.2
Gujral, M.3
Zheng, H.4
Malhotra, D.5
-
13
-
-
24344500211
-
Initial sequence of the chimpanzee genome and comparison with the human genome
-
Chimpanzee-Sequencing-and-Analysis-Consortium
-
Chimpanzee-Sequencing-and-Analysis-Consortium (2005) Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437: 69-87.
-
(2005)
Nature
, vol.437
, pp. 69-87
-
-
-
14
-
-
0033828761
-
Estimate of the mutation rate per nucleotide in humans
-
Nachman MW, Crowell SL (2000) Estimate of the mutation rate per nucleotide in humans. Genetics 156: 297-304.
-
(2000)
Genetics
, vol.156
, pp. 297-304
-
-
Nachman, M.W.1
Crowell, S.L.2
-
15
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
-Genomes-Project-Consortium
-
-Genomes-Project-Consortium (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491: 56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
-
16
-
-
45449101500
-
Natural selection on genes that underlie human disease susceptibility
-
Blekhman R, Man O, Herrmann L, Boyko AR, Indap A, et al. (2008) Natural selection on genes that underlie human disease susceptibility. Curr Biol 18: 883-889.
-
(2008)
Curr Biol
, vol.18
, pp. 883-889
-
-
Blekhman, R.1
Man, O.2
Herrmann, L.3
Boyko, A.R.4
Indap, A.5
-
17
-
-
18544381909
-
A high-resolution recombination map of the human genome
-
Kong A, Gudbjartsson DF, Sainz J, Jonsdottir GM, Gudjonsson SA, et al. (2002) A high-resolution recombination map of the human genome. Nat Genet 31: 241-247.
-
(2002)
Nat Genet
, vol.31
, pp. 241-247
-
-
Kong, A.1
Gudbjartsson, D.F.2
Sainz, J.3
Jonsdottir, G.M.4
Gudjonsson, S.A.5
-
18
-
-
77950661675
-
Impact of replication timing on non-CpG and CpG substitution rates in mammalian genomes
-
Chen CL, Rappailles A, Duquenne L, Huvet M, Guilbaud G, et al. (2010) Impact of replication timing on non-CpG and CpG substitution rates in mammalian genomes. Genome Res 20: 447-457.
-
(2010)
Genome Res
, vol.20
, pp. 447-457
-
-
Chen, C.L.1
Rappailles, A.2
Duquenne, L.3
Huvet, M.4
Guilbaud, G.5
-
19
-
-
76349123622
-
Sequencing newly replicated DNA reveals widespread plasticity in human replication timing
-
Hansen RS, Thomas S, Sandstrom R, Canfield TK, Thurman RE, et al. (2010) Sequencing newly replicated DNA reveals widespread plasticity in human replication timing. Proceedings of the National Academy of Sciences of the United States of America 107: 139-144.
-
(2010)
Proceedings of the National Academy of Sciences of the United States of America
, vol.107
, pp. 139-144
-
-
Hansen, R.S.1
Thomas, S.2
Sandstrom, R.3
Canfield, T.K.4
Thurman, R.E.5
-
20
-
-
78649284973
-
Genomic signatures of germline gene expression
-
McVicker G, Green P (2010) Genomic signatures of germline gene expression. Genome research 20: 1503-1511.
-
(2010)
Genome Research
, vol.20
, pp. 1503-1511
-
-
McVicker, G.1
Green, P.2
-
21
-
-
84865822182
-
Systematic localization of common disease-associated variation in regulatory DNA
-
Maurano MT, Humbert R, Rynes E, Thurman RE, Haugen E, et al. (2012) Systematic localization of common disease-associated variation in regulatory DNA. Science 337: 1190-1195.
-
(2012)
Science
, vol.337
, pp. 1190-1195
-
-
Maurano, M.T.1
Humbert, R.2
Rynes, E.3
Thurman, R.E.4
Haugen, E.5
-
22
-
-
39049187468
-
Characteristics, causes and evolutionary consequences of male-biased mutation
-
Ellegren H (2007) Characteristics, causes and evolutionary consequences of male-biased mutation. Proc Biol Sci 274: 1-10.
-
(2007)
Proc Biol Sci
, vol.274
, pp. 1-10
-
-
Ellegren, H.1
-
23
-
-
84870627323
-
Genomic evidence for elevated mutation rates in highly expressed genes
-
Park C, Qian W, Zhang J (2012) Genomic evidence for elevated mutation rates in highly expressed genes. EMBO reports 13: 1123-1129.
-
(2012)
EMBO Reports
, vol.13
, pp. 1123-1129
-
-
Park, C.1
Qian, W.2
Zhang, J.3
-
24
-
-
47149088853
-
Human-macaque comparisons illuminate variation in neutral substitution rates
-
Tyekucheva S, Makova KD, Karro JE, Hardison RC, Miller W, et al. (2008) Human-macaque comparisons illuminate variation in neutral substitution rates. Genome Biol 9: R76.
-
(2008)
Genome Biol
, vol.9
-
-
Tyekucheva, S.1
Makova, K.D.2
Karro, J.E.3
Hardison, R.C.4
Miller, W.5
-
25
-
-
0024497416
-
Mutation rates differ among regions of the mammalian genome
-
DOI 10.1038/337283a0
-
Wolfe KH, Sharp PM, Li W-H (1989) Mutation rates differ among regions of the mammalian genome. Nature 337: 283-285. (Pubitemid 19030568)
-
(1989)
Nature
, vol.337
, Issue.6204
, pp. 283-285
-
-
Wolfe, K.H.1
Sharp, P.M.2
Li, W.-H.3
-
26
-
-
44949198268
-
The impact of recombination on nucleotide substitutions in the human genome
-
Duret L, Arndt PF (2008) The impact of recombination on nucleotide substitutions in the human genome. PLoS Genet 4: e1000071.
-
(2008)
PLoS Genet
, vol.4
-
-
Duret, L.1
Arndt, P.F.2
-
27
-
-
0038015586
-
A neutral explanation for the correlation of diversity with recombination rates in humans
-
DOI 10.1086/375657
-
Hellmann I, Ebersberger I, Ptak SE, Paabo S, Przeworski M (2003) A neutral explanation for the correlation of diversity with recombination rates in humans. Am J Hum Genet 72: 1527-1535. (Pubitemid 36628391)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.6
, pp. 1527-1535
-
-
Hellmann, I.1
Ebersberger, I.2
Ptak, S.E.3
Paabo, S.4
Przeworski, M.5
-
28
-
-
0036640951
-
Human SNP variability and mutation rate are higher in regions of high recombination
-
DOI 10.1016/S0168-9525(02)02669-0, PII S0168952502026690
-
Lercher MJ, Hurst LD (2002) Human SNP variability and mutation rate are higher in regions of high recombination. Trends Genet 18: 337-340. (Pubitemid 34804439)
-
(2002)
Trends in Genetics
, vol.18
, Issue.7
, pp. 337-340
-
-
Lercher, M.J.1
Hurst, L.D.2
-
29
-
-
77951539351
-
Timing of replication is a determinant of neutral substitution rates but does not explain slow Y chromosome evolution in rodents
-
Pink CJ, Hurst LD (2010) Timing of replication is a determinant of neutral substitution rates but does not explain slow Y chromosome evolution in rodents. Mol Biol Evol 27: 1077-1086.
-
(2010)
Mol Biol Evol
, vol.27
, pp. 1077-1086
-
-
Pink, C.J.1
Hurst, L.D.2
-
30
-
-
63449141981
-
Human mutation rate associated with DNA replication timing
-
Stamatoyannopoulos JA, Adzhubei I, Thurman RE, Kryukov GV, Mirkin SM, et al. (2009) Human mutation rate associated with DNA replication timing. Nat Genet 41: 393-395.
-
(2009)
Nat Genet
, vol.41
, pp. 393-395
-
-
Stamatoyannopoulos, J.A.1
Adzhubei, I.2
Thurman, R.E.3
Kryukov, G.V.4
Mirkin, S.M.5
|