-
1
-
-
80054760378
-
Variation in the mutation rate across mammalian genomes
-
Hodgkinson, A., & Eyre-Walker, A. Variation in the mutation rate across mammalian genomes. Nat. Rev. Genet. 12, 756-766 (2011
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 756-766
-
-
Hodgkinson, A.1
Eyre-Walker, A.2
-
2
-
-
0019884371
-
5-methylcytosine in eukaryotic DNA
-
Ehrlich, M., & Wang, R.Y. 5-methylcytosine in eukaryotic DNA. Science 212, 1350-1357 (1981
-
(1981)
Science
, vol.212
, pp. 1350-1357
-
-
Ehrlich, M.1
Wang, R.Y.2
-
3
-
-
0025145277
-
5-methylcytosine as an endogenous mutagen in the human LDL receptor and p53 genes
-
Rideout, W.M. III, Coetzee, G.A., Olumi, A.F., & Jones, P.A. 5-methylcytosine as an endogenous mutagen in the human LDL receptor and p53 genes. Science 249, 1288-1290 (1990
-
(1990)
Science
, vol.249
, pp. 1288-1290
-
-
Rideout, W.M.1
Coetzee, G.A.2
Olumi, A.F.3
Jones, P.A.4
-
4
-
-
84879684637
-
Genome-wide inference of natural selection on human transcription factor binding sites
-
Arbiza L., et al. Genome-wide inference of natural selection on human transcription factor binding sites. Nat. Genet. 45, 723-729 (2013
-
(2013)
Nat. Genet.
, vol.45
, pp. 723-729
-
-
Arbiza, L.1
-
5
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
Yang Y., et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N. Engl. J. Med. 369, 1502-1511 (2013
-
(2013)
N. Engl. J. Med.
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
-
6
-
-
4644300141
-
Bayesian markov chain monte carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution
-
Hwang, D.G., & Green, P. Bayesian Markov chain Monte Carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution. Proc. Natl. Acad. Sci. USA 101, 13994-14001 (2004
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 13994-14001
-
-
Hwang, D.G.1
Green, P.2
-
7
-
-
0026631005
-
The influence of nearest neighbors on the rate and pattern of spontaneous point mutations
-
Blake, R.D., Hess, S.T., & Nicholson-Tuell, J. The influence of nearest neighbors on the rate and pattern of spontaneous point mutations. J. Mol. Evol. 34, 189-200 (1992
-
(1992)
J. Mol. Evol.
, vol.34
, pp. 189-200
-
-
Blake, R.D.1
Hess, S.T.2
Nicholson-Tuell, J.3
-
8
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
Neale B.M., et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242-245 (2012
-
(2012)
Nature
, vol.485
, pp. 242-245
-
-
Neale, B.M.1
-
9
-
-
84871595000
-
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation
-
Michaelson J.J., et al. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell 151, 1431-1442 (2012
-
(2012)
Cell
, vol.151
, pp. 1431-1442
-
-
Michaelson, J.J.1
-
10
-
-
84893919352
-
De novo mutations in schizophrenia implicate synaptic networks
-
Fromer M., et al. De novo mutations in schizophrenia implicate synaptic networks. Nature 506, 179-184 (2014
-
(2014)
Nature
, vol.506
, pp. 179-184
-
-
Fromer, M.1
-
11
-
-
84880507665
-
Mutational heterogeneity in cancer and the search for new cancer-Associated genes
-
Lawrence M.S., et al. Mutational heterogeneity in cancer and the search for new cancer-Associated genes. Nature 499, 214-218 (2013
-
(2013)
Nature
, vol.499
, pp. 214-218
-
-
Lawrence, M.S.1
-
12
-
-
84922394049
-
A framework for the interpretation of de novo mutation in human disease
-
Samocha K.E., et al. A framework for the interpretation of de novo mutation in human disease. Nat. Genet. 46, 944-950 (2014
-
(2014)
Nat. Genet.
, vol.46
, pp. 944-950
-
-
Samocha, K.E.1
-
13
-
-
84975795680
-
An integrated map of genetic variation from 1 092 human genomes
-
1000 Genomes Project Consortium.
-
1000 Genomes Project Consortium. An integrated map of genetic variation from 1 092 human genomes Nature 491 56-65 2012
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
-
14
-
-
79959524146
-
A haplotype map of the human genome
-
International HapMap Consortium.
-
International HapMap Consortium. A haplotype map of the human genome. Nature 437 1299-1320 (2005
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
15
-
-
52949093871
-
African genetic diversity: Implications for human demographic history, modern human origins, and complex disease mapping
-
Campbell, M.C., & Tishkoff, S.A. African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu. Rev. Genomics Hum. Genet. 9, 403-433 (2008
-
(2008)
Annu. Rev. Genomics Hum. Genet.
, vol.9
, pp. 403-433
-
-
Campbell, M.C.1
Tishkoff, S.A.2
-
16
-
-
0346728470
-
The X chromosome in population genetics
-
Schaffner, S.F. The X chromosome in population genetics. Nat. Rev. Genet. 5, 43-51 (2004
-
(2004)
Nat. Rev. Genet.
, vol.5
, pp. 43-51
-
-
Schaffner, S.F.1
-
17
-
-
0033828761
-
Estimate of the mutation rate per nucleotide in humans
-
Nachman, M.W., & Crowell, S.L. Estimate of the mutation rate per nucleotide in humans. Genetics 156, 297-304 (2000
-
(2000)
Genetics
, vol.156
, pp. 297-304
-
-
Nachman, M.W.1
Crowell, S.L.2
-
18
-
-
79959354681
-
Substitution rate variation at human CpG sites correlates with non-CpG divergence, methylation level and GC content
-
Mugal, C.F., & Ellegren, H. Substitution rate variation at human CpG sites correlates with non-CpG divergence, methylation level and GC content. Genome Biol. 12, R58 (2011
-
(2011)
Genome Biol.
, vol.12
, pp. R58
-
-
Mugal, C.F.1
Ellegren, H.2
-
19
-
-
84919651076
-
Genome-wide analysis of DNA methylation dynamics during early human development
-
Okae H., et al. Genome-wide analysis of DNA methylation dynamics during early human development. PLoS Genet. 10, e1004868 (2014
-
(2014)
PLoS Genet.
, vol.10
, pp. e1004868
-
-
Okae, H.1
-
20
-
-
84903516439
-
Decoding the regulatory landscape of medulloblastoma using DNA methylation sequencing
-
Hovestadt V., et al. Decoding the regulatory landscape of medulloblastoma using DNA methylation sequencing. Nature 510, 537-541 (2014
-
(2014)
Nature
, vol.510
, pp. 537-541
-
-
Hovestadt, V.1
-
21
-
-
77954027855
-
The mutational spectrum of non-CpG DNA varies with CpG content
-
Walser, J.-C., & Furano, A.V. The mutational spectrum of non-CpG DNA varies with CpG content. Genome Res. 20, 875-882 (2010
-
(2010)
Genome Res.
, vol.20
, pp. 875-882
-
-
Walser, J.-C.1
Furano, A.V.2
-
22
-
-
0036773784
-
Mutagenicity of 5-formylcytosine an oxidation product of 5-methylcytosine, in DNA in mammalian cells
-
Kamiya, H., et al. Mutagenicity of 5-formylcytosine, an oxidation product of 5-methylcytosine, in DNA in mammalian cells. J. Biochem. 132, 551-555 (2002
-
(2002)
J. Biochem.
, vol.132
, pp. 551-555
-
-
Kamiya, H.1
-
23
-
-
79956330964
-
CpG islands and the regulation of transcription
-
Deaton, A.M., & Bird, A. CpG islands and the regulation of transcription. Genes Dev. 25, 1010-1022 (2011
-
(2011)
Genes Dev.
, vol.25
, pp. 1010-1022
-
-
Deaton, A.M.1
Bird, A.2
-
24
-
-
0023256559
-
Slipped-strand mispairing: A major mechanism for DNA sequence evolution
-
Levinson, G., & Gutman, G.A. Slipped-strand mispairing: a major mechanism for DNA sequence evolution. Mol. Biol. Evol. 4, 203-221 (1987
-
(1987)
Mol. Biol. Evol.
, vol.4
, pp. 203-221
-
-
Levinson, G.1
Gutman, G.A.2
-
25
-
-
84874758682
-
New words in human mutagenesis
-
Panchin, A.Y., Mitrofanov, S.I., Alexeevski, A.V., Spirin, S.A., & Panchin, Y.V. New words in human mutagenesis. BMC Bioinformatics 12, 268 (2011
-
(2011)
BMC Bioinformatics
, vol.12
, pp. 268
-
-
Panchin, A.Y.1
Mitrofanov, S.I.2
Alexeevski, A.V.3
Spirin, S.A.4
Panchin, Y.V.5
-
26
-
-
77955657333
-
Watching the clock: Studying variation in rates of molecular evolution between species
-
Lanfear, R., Welch, J.J., & Bromham, L. Watching the clock: studying variation in rates of molecular evolution between species. Trends Ecol. Evol. 25, 495-503 (2010
-
(2010)
Trends Ecol. Evol.
, vol.25
, pp. 495-503
-
-
Lanfear, R.1
Welch, J.J.2
Bromham, L.3
-
27
-
-
84865208871
-
Rate of de novo mutations and the importance of fathers age to disease risk
-
Kong A., et al. Rate of de novo mutations and the importance of fathers age to disease risk. Nature 488, 471-475 (2012
-
(2012)
Nature
, vol.488
, pp. 471-475
-
-
Kong, A.1
-
28
-
-
27144539145
-
Natural selection on protein-coding genes in the human genome
-
Bustamante C.D., et al. Natural selection on protein-coding genes in the human genome. Nature 437, 1153-1157 (2005
-
(2005)
Nature
, vol.437
, pp. 1153-1157
-
-
Bustamante, C.D.1
-
29
-
-
84872143942
-
Analysis of 6 515 exomes reveals the recent origin of most human protein-coding variants
-
Fu, W., et al. Analysis of 6, 515 exomes reveals the recent origin of most human protein-coding variants. Nature 493, 216-220 (2013
-
(2013)
Nature
, vol.493
, pp. 216-220
-
-
Fu, W.1
-
30
-
-
80051968181
-
Needles in stacks of needles: Finding disease-causal variants in a wealth of genomic data
-
Cooper, G.M., & Shendure, J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat. Rev. Genet. 12, 628-640 (2011
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 628-640
-
-
Cooper, G.M.1
Shendure, J.2
-
31
-
-
84891837451
-
The human gene mutation database: Building a comprehensive mutation repository for clinical and molecular genetics diagnostic testing and personalized genomic medicine
-
Stenson, P.D., et al. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum. Genet. 133, 1-9 (2014
-
(2014)
Hum. Genet.
, vol.133
, pp. 1-9
-
-
Stenson, P.D.1
-
32
-
-
84884592445
-
Genic intolerance to functional variation and the interpretation of personal genomes
-
Petrovski, S., Wang, Q., Heinzen, E.L., Allen, A.S., & Goldstein, D.B. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet. 9, e1003709 (2013
-
(2013)
PLoS Genet.
, vol.9
, pp. e1003709
-
-
Petrovski, S.1
Wang, Q.2
Heinzen, E.L.3
Allen, A.S.4
Goldstein, D.B.5
-
33
-
-
84878496035
-
From mouse to human: Evolutionary genomics analysis of human orthologs of essential genes
-
Georgi, B., Voight, B.F., & Bućan, M. From mouse to human: evolutionary genomics analysis of human orthologs of essential genes. PLoS Genet. 9, e1003484 (2013
-
(2013)
PLoS Genet.
, vol.9
, pp. e1003484
-
-
Georgi, B.1
Voight, B.F.2
Bućan, M.3
-
34
-
-
84903590570
-
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
-
Uddin M., et al. Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder. Nat. Genet. 46, 742-747 (2014
-
(2014)
Nat. Genet.
, vol.46
, pp. 742-747
-
-
Uddin, M.1
-
35
-
-
84912144889
-
Synaptic transcriptional and chromatin genes disrupted in autism
-
De Rubeis, S., et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515, 209-215 (2014
-
(2014)
Nature
, vol.515
, pp. 209-215
-
-
De Rubeis, S.1
-
36
-
-
84884130368
-
De novo mutations in epileptic encephalopathies
-
Epilepsy Phenome/genome Project.
-
Epi4K Consortium & Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature 501 217-221 (2013
-
(2013)
Nature
, vol.501
, pp. 217-221
-
-
Consortium, E.1
-
37
-
-
84924666082
-
Large-scale discovery of novel genetic causes of developmental disorders
-
Deciphering Developmental Disorders Study.
-
Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature 519 223-228 (2015
-
(2015)
Nature
, vol.519
, pp. 223-228
-
-
-
38
-
-
84908314239
-
De novo mutations in moderate or severe intellectual disability
-
Hamdan F.F., et al. De novo mutations in moderate or severe intellectual disability. PLoS Genet. 10, e1004772 (2014
-
(2014)
PLoS Genet.
, vol.10
, pp. e1004772
-
-
Hamdan, F.F.1
-
39
-
-
84868543309
-
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study
-
Rauch A., et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380, 1674-1682 (2012
-
(2012)
Lancet
, vol.380
, pp. 1674-1682
-
-
Rauch, A.1
-
40
-
-
84868686559
-
Diagnostic exome sequencing in persons with severe intellectual disability
-
de Ligt J., et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 367, 1921-1929 (2012
-
(2012)
N. Engl. J. Med.
, vol.367
, pp. 1921-1929
-
-
De Ligt, J.1
-
41
-
-
0026716153
-
Molecular genetics of von Willebrand disease
-
Ginsburg, D., & Bowie, E.J. Molecular genetics of von Willebrand disease. Blood 79, 2507-2519 (1992
-
(1992)
Blood
, vol.79
, pp. 2507-2519
-
-
Ginsburg, D.1
Bowie, E.J.2
-
42
-
-
84912101541
-
The contribution of de novo coding mutations to autism spectrum disorder
-
Iossifov I., et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature 515, 216-221 (2014
-
(2014)
Nature
, vol.515
, pp. 216-221
-
-
Iossifov, I.1
-
43
-
-
84943528737
-
Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology
-
Orosco L.A., et al. Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology. Nat. Commun. 5, 4692 (2014
-
(2014)
Nat. Commun.
, vol.5
, pp. 4692
-
-
Orosco, L.A.1
-
44
-
-
84907444273
-
How much of the variation in the mutation rate along the human genome can be explained?
-
Eyre-Walker, A., & Eyre-Walker, Y.C. How much of the variation in the mutation rate along the human genome can be explained? G3 (Bethesda) 4, 1667-1670 (2014
-
(2014)
G3 (Bethesda
, vol.4
, pp. 1667-1670
-
-
Eyre-Walker, A.1
Eyre-Walker, Y.C.2
-
45
-
-
0016087667
-
On some principles governing molecular evolution
-
Kimura, M., & Ohta, T. On some principles governing molecular evolution. Proc. Natl. Acad. Sci. USA 71, 2848-2852 (1974
-
(1974)
Proc. Natl. Acad. Sci. USA
, vol.71
, pp. 2848-2852
-
-
Kimura, M.1
Ohta, T.2
-
46
-
-
84906855270
-
Determinants of mutation rate variation in the human germline
-
Ségurel, L., Wyman, M.J., & Przeworski, M. Determinants of mutation rate variation in the human germline. Annu. Rev. Genomics Hum. Genet. 15, 47-70 (2014
-
(2014)
Annu. Rev. Genomics Hum. Genet.
, vol.15
, pp. 47-70
-
-
Ségurel, L.1
Wyman, M.J.2
Przeworski, M.3
-
47
-
-
84925871417
-
Recombination affects accumulation of damaging and disease-Associated mutations in human populations
-
Hussin J.G., et al. Recombination affects accumulation of damaging and disease-Associated mutations in human populations. Nat. Genet. 47, 400-404 (2015
-
(2015)
Nat. Genet.
, vol.47
, pp. 400-404
-
-
Hussin, J.G.1
-
48
-
-
84911478082
-
Genetic variation in human DNA replication timing
-
Koren A., et al. Genetic variation in human DNA replication timing. Cell 159, 1015-1026 (2014
-
(2014)
Cell
, vol.159
, pp. 1015-1026
-
-
Koren, A.1
-
49
-
-
1542510106
-
Phylogenetic estimation of context-dependent substitution rates by maximum likelihood
-
Siepel, A., & Haussler, D. Phylogenetic estimation of context-dependent substitution rates by maximum likelihood. Mol. Biol. Evol. 21, 468-488 (2004
-
(2004)
Mol. Biol. Evol.
, vol.21
, pp. 468-488
-
-
Siepel, A.1
Haussler, D.2
|