-
1
-
-
84863970074
-
De novo mutations in human genetic disease
-
COI: 1:CAS:528:DC%2BC38XhtVekt7jF, PID: 22805709
-
Veltman, J. A. & Brunner, H. G. De novo mutations in human genetic disease. Nat. Rev. Genet. 13, 565–575 (2012)
-
(2012)
Nat. Rev. Genet.
, vol.13
, pp. 565-575
-
-
Veltman, J.A.1
Brunner, H.G.2
-
2
-
-
84882837534
-
Signatures of mutational processes in human cancer
-
COI: 1:CAS:528:DC%2BC3sXhtlWjur7M, PID: 3776390
-
Alexandrov, L. B. et al. Signatures of mutational processes in human cancer. Nature 500, 415–421 (2013)
-
(2013)
Nature
, vol.500
, pp. 415-421
-
-
Alexandrov, L.B.1
-
3
-
-
84865856910
-
Revising the human mutation rate: implications for understanding human evolution
-
COI: 1:CAS:528:DC%2BC38XhtlamtbrJ
-
Scally, A. & Durbin, R. Revising the human mutation rate: implications for understanding human evolution. Nat. Rev. Genet. 13, 745–753 (2012)
-
(2012)
Nat. Rev. Genet.
, vol.13
, pp. 745-753
-
-
Scally, A.1
Durbin, R.2
-
4
-
-
84865208871
-
Rate of de novo mutations and the importance of father’s age to disease risk
-
COI: 1:CAS:528:DC%2BC38Xht1emtrbO, PID: 22914163
-
Kong, A. et al. Rate of de novo mutations and the importance of father’s age to disease risk. Nature 488, 471–475 (2012)
-
(2012)
Nature
, vol.488
, pp. 471-475
-
-
Kong, A.1
-
5
-
-
84955601029
-
New observations on maternal age effect on germline de novo mutations
-
COI: 1:CAS:528:DC%2BC28Xht1ersrc%3D, PID: 26781218
-
Wong, W. S. W. et al. New observations on maternal age effect on germline de novo mutations. Nat. Commun. 7, 10486 (2016)
-
(2016)
Nat. Commun.
, vol.7
, pp. 10486
-
-
Wong, W.S.W.1
-
6
-
-
84975297904
-
Parent-of-origin-specific signatures of de novo mutations
-
COI: 1:CAS:528:DC%2BC28XhtVSksbrL, PID: 27322544
-
Goldmann, J. M. et al. Parent-of-origin-specific signatures of de novo mutations. Nat. Genet. 48, 935–939 (2016)
-
(2016)
Nat. Genet.
, vol.48
, pp. 935-939
-
-
Goldmann, J.M.1
-
7
-
-
84908292423
-
Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA
-
COI: 1:CAS:528:DC%2BC2cXhslKmtbzJ, PID: 25313049
-
Rebolledo-Jaramillo, B. et al. Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA. Proc. Natl Acad. Sci. USA 111, 15474–15479 (2014)
-
(2014)
Proc. Natl Acad. Sci. USA
, vol.111
, pp. 15474-15479
-
-
Rebolledo-Jaramillo, B.1
-
8
-
-
34548682968
-
The molecular anatomy of spontaneous germline mutations in human testes
-
COI: 1:CAS:528:DC%2BD2sXhtFeksL%2FL
-
Qin, J. et al. The molecular anatomy of spontaneous germline mutations in human testes. PLoS Biol. 5, 1912–1922 (2007)
-
(2007)
PLoS Biol.
, vol.5
, pp. 1912-1922
-
-
Qin, J.1
-
9
-
-
84958093480
-
An expanded sequence context model broadly explains variability in polymorphism levels across the human genome
-
COI: 1:CAS:528:DC%2BC28XisFKhtbk%3D, PID: 26878723
-
Aggarwala, V. & Voight, B. F. An expanded sequence context model broadly explains variability in polymorphism levels across the human genome. Nat. Genet. 48, 349–355 (2016)
-
(2016)
Nat. Genet.
, vol.48
, pp. 349-355
-
-
Aggarwala, V.1
Voight, B.F.2
-
10
-
-
84870955253
-
Differential relationship of DNA replication timing to different forms of human mutation and variation
-
COI: 1:CAS:528:DC%2BC38XhsleisLrO, PID: 23176822
-
Koren, A. et al. Differential relationship of DNA replication timing to different forms of human mutation and variation. Am. J. Hum. Genet. 91, 1033–1040 (2012)
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 1033-1040
-
-
Koren, A.1
-
11
-
-
84929132687
-
Large-scale whole-genome sequencing of the Icelandic population
-
COI: 1:CAS:528:DC%2BC2MXltFWkt7Y%3D, PID: 25807286
-
Gudbjartsson, D. F. et al. Large-scale whole-genome sequencing of the Icelandic population. Nat. Genet. 47, 435–444 (2015)
-
(2015)
Nat. Genet.
, vol.47
, pp. 435-444
-
-
Gudbjartsson, D.F.1
-
12
-
-
84948731931
-
Clusters of multiple mutations: incidence and molecular mechanisms
-
COI: 1:CAS:528:DC%2BC2MXhvFGmsLbI, PID: 26631512
-
Chan, K. & Gordenin, D. A. Clusters of multiple mutations: incidence and molecular mechanisms. Annu. Rev. Genet. 49, 243–267 (2015)
-
(2015)
Annu. Rev. Genet.
, vol.49
, pp. 243-267
-
-
Chan, K.1
Gordenin, D.A.2
-
13
-
-
84923358817
-
Cell-of-origin chromatin organization shapes the mutational landscape of cancer
-
COI: 1:CAS:528:DC%2BC2MXjtVSktbo%3D, PID: 4405175
-
Polak, P. et al. Cell-of-origin chromatin organization shapes the mutational landscape of cancer. Nature 518, 360–364 (2015)
-
(2015)
Nature
, vol.518
, pp. 360-364
-
-
Polak, P.1
-
14
-
-
84956620827
-
Timing, rates and spectra of human germline mutation
-
COI: 1:CAS:528:DC%2BC2MXitVWqtrrF, PID: 26656846
-
Rahbari, R. et al. Timing, rates and spectra of human germline mutation. Nat. Genet. 48, 126–133 (2016)
-
(2016)
Nat. Genet.
, vol.48
, pp. 126-133
-
-
Rahbari, R.1
-
15
-
-
84937191220
-
Genome-wide patterns and properties of de novo mutations in humans
-
COI: 1:CAS:528:DC%2BC2MXhtFemt7nM, PID: 25985141
-
Francioli, L. C. et al. Genome-wide patterns and properties of de novo mutations in humans. Nat. Genet. 47, 822–826 (2015)
-
(2015)
Nat. Genet.
, vol.47
, pp. 822-826
-
-
Francioli, L.C.1
-
16
-
-
85000659045
-
Multi-nucleotide de novo mutations in humans
-
PID: 27846220
-
Besenbacher, S. et al. Multi-nucleotide de novo mutations in humans. PLoS Genet. 12, e1006315 (2016)
-
(2016)
PLoS Genet.
, vol.12
-
-
Besenbacher, S.1
-
17
-
-
85028621089
-
Genome-wide characteristics of de novo mutations in autism. npj
-
Yuen, R. K. C. et al. Genome-wide characteristics of de novo mutations in autism. npj Genomic Med. 1, 16027 (2016)
-
(2016)
Genomic Med.
, vol.1
, pp. 16027
-
-
Yuen, R.K.C.1
-
18
-
-
85013020597
-
APOBEC3A/B-induced mutagenesis is responsible for 20% of heritable mutations in the TpCpW context
-
COI: 1:CAS:528:DC%2BC2sXpsFyru78%3D, PID: 27940951
-
Seplyarskiy, V. B., Andrianova, M. A. & Bazykin, G. A. APOBEC3A/B-induced mutagenesis is responsible for 20% of heritable mutations in the TpCpW context. Genome Res. 27, 175–184 (2017)
-
(2017)
Genome Res.
, vol.27
, pp. 175-184
-
-
Seplyarskiy, V.B.1
Andrianova, M.A.2
Bazykin, G.A.3
-
19
-
-
85029746090
-
Whole genome characterization of sequence diversity of 15,220 Icelanders. Sci
-
Jónsson, H. et al. Whole genome characterization of sequence diversity of 15,220 Icelanders. Sci. Data 4, 170115 (2017)
-
(2017)
Data
, vol.4
, pp. 170115
-
-
Jónsson, H.1
-
20
-
-
84925497848
-
Hypermutation in human cancer genomes: footprints and mechanisms
-
COI: 1:CAS:528:DC%2BC2cXhvFKmu7jI, PID: 25568919
-
Roberts, S. A. & Gordenin, D. A. Hypermutation in human cancer genomes: footprints and mechanisms. Nat. Rev. Cancer 14, 786–800 (2014)
-
(2014)
Nat. Rev. Cancer
, vol.14
, pp. 786-800
-
-
Roberts, S.A.1
Gordenin, D.A.2
-
21
-
-
84988353525
-
The rate of meiotic gene conversion varies by sex and age
-
COI: 1:CAS:528:DC%2BC28XhsFenu7nM, PID: 27643539
-
Halldorsson, B. V. et al. The rate of meiotic gene conversion varies by sex and age. Nat. Genet. 48, 1377–1384 (2016)
-
(2016)
Nat. Genet.
, vol.48
, pp. 1377-1384
-
-
Halldorsson, B.V.1
-
22
-
-
84926430103
-
Meiosis and maternal aging: insights from aneuploid oocytes and trisomy births
-
PID: 25833844
-
Herbert, M., Kalleas, D., Cooney, D., Lamb, M. & Lister, L. Meiosis and maternal aging: insights from aneuploid oocytes and trisomy births. Cold Spring Harb. Perspect. Biol. 7, a017970 (2015)
-
(2015)
Cold Spring Harb. Perspect. Biol.
, vol.7
, pp. a017970
-
-
Herbert, M.1
Kalleas, D.2
Cooney, D.3
Lamb, M.4
Lister, L.5
-
23
-
-
84906855270
-
Determinants of mutation rate variation in the human germline
-
PID: 25000986
-
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
-
24
-
-
84957824670
-
Life history effects on the molecular clock of autosomes and sex chromosomes
-
COI: 1:CAS:528:DC%2BC28Xhtlamtbk%3D, PID: 26811451
-
Amster, G. & Sella, G. Life history effects on the molecular clock of autosomes and sex chromosomes. Proc. Natl Acad. Sci. USA 113, 1588–1593 (2016)
-
(2016)
Proc. Natl Acad. Sci. USA
, vol.113
, pp. 1588-1593
-
-
Amster, G.1
Sella, G.2
-
25
-
-
84961288369
-
Interpreting the dependence of mutation rates on age and time
-
PID: 26761240
-
Gao, Z., Wyman, M. J., Sella, G. & Przeworski, M. Interpreting the dependence of mutation rates on age and time. PLoS Biol. 14, e1002355 (2016)
-
(2016)
PLoS Biol.
, vol.14
-
-
Gao, Z.1
Wyman, M.J.2
Sella, G.3
Przeworski, M.4
-
26
-
-
84988967241
-
Variation in the molecular clock of primates
-
COI: 1:CAS:528:DC%2BC28XhsVKhsb%2FN, PID: 27601674
-
Moorjani, P., Amorim, C. E., Arndt, P. F. & Przeworski, M. Variation in the molecular clock of primates. Proc. Natl Acad. Sci. USA 113, 10607–10612 (2016)
-
(2016)
Proc. Natl Acad. Sci. USA
, vol.113
, pp. 10607-10612
-
-
Moorjani, P.1
Amorim, C.E.2
Arndt, P.F.3
Przeworski, M.4
-
27
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
COI: 1:CAS:528:DC%2BD1MXot1Cjtbo%3D, PID: 2705234
-
Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754–1760 (2009)
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
28
-
-
77956295988
-
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
-
COI: 1:CAS:528:DC%2BC3cXhtFeru7jM, PID: 20644199
-
McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297–1303 (2010)
-
(2010)
Genome Res.
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
-
29
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
PID: 19505943
-
Li, H. et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078–2079 (2009)
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
-
30
-
-
84876020288
-
Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation
-
COI: 1:CAS:528:DC%2BC3sXlsVCnu7Y%3D, PID: 23303777
-
Costello, M. et al. Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation. Nucleic Acids Res. 41, e67 (2013)
-
(2013)
Nucleic Acids Res.
, vol.41
-
-
Costello, M.1
-
31
-
-
72449122779
-
Parental origin of sequence variants associated with complex diseases
-
COI: 1:CAS:528:DC%2BD1MXhsFOhtbvJ, PID: 20016592
-
Kong, A. et al. Parental origin of sequence variants associated with complex diseases. Nature 462, 868–874 (2009)
-
(2009)
Nature
, vol.462
, pp. 868-874
-
-
Kong, A.1
-
32
-
-
77951770756
-
BEDTools: a flexible suite of utilities for comparing genomic features
-
COI: 1:CAS:528:DC%2BC3cXivFGkurc%3D, PID: 20110278
-
Quinlan, A. R. & Hall, I. M. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26, 841–842 (2010)
-
(2010)
Bioinformatics
, vol.26
, pp. 841-842
-
-
Quinlan, A.R.1
Hall, I.M.2
-
33
-
-
84892365780
-
The complete genome sequence of a Neanderthal from the Altai Mountains
-
Prüfer, K. et al. The complete genome sequence of a Neanderthal from the Altai Mountains. Nature 505, 43–49 (2014)
-
(2014)
Nature
, vol.505
, pp. 43-49
-
-
Prüfer, K.1
-
34
-
-
84913533708
-
Alignathon: a competitive assessment of whole-genome alignment methods
-
COI: 1:CAS:528:DC%2BC2cXitVOls7zF, PID: 25273068
-
Earl, D. et al. Alignathon: a competitive assessment of whole-genome alignment methods. Genome Res. 24, 2077–2089 (2014)
-
(2014)
Genome Res.
, vol.24
, pp. 2077-2089
-
-
Earl, D.1
|