-
1
-
-
84943171338
-
Aglobal reference for human genetic variation
-
The 1000 Genomes Project Consortium. 2015. Aglobal reference for human genetic variation. Nature 526: 68-74.
-
(2015)
Nature
, vol.526
, pp. 68-74
-
-
-
2
-
-
84958093480
-
An expanded sequence context model broadly explains variability in polymorphism levels across the human genome
-
Aggarwala V, Voight BF. 2016. An expanded sequence context model broadly explains variability in polymorphism levels across the human genome. Nat Genet 48: 349-355.
-
(2016)
Nat Genet
, vol.48
, pp. 349-355
-
-
Aggarwala, V.1
Voight, B.F.2
-
3
-
-
84969769378
-
Mutation processes in 293-based clones overexpressing the DNA cytosine deaminase APOBEC3B
-
Akre MK, Starrett GJ, Quist JS, Temiz NA, Carpenter MA, Tutt ANJ, Grigoriadis A, Harris RS. 2016. Mutation processes in 293-based clones overexpressing the DNA cytosine deaminase APOBEC3B. PLoS One 11: e0155391.
-
(2016)
PLoS One
, vol.11
-
-
Akre, M.K.1
Starrett, G.J.2
Quist, J.S.3
Temiz, N.A.4
Carpenter, M.A.5
Tutt, A.N.J.6
Grigoriadis, A.7
Harris, R.S.8
-
4
-
-
84882837534
-
Signatures of mutational processes in human cancer
-
Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SAJR, Behjati S, Biankin AV, Bignell GR, Bolli N, Borg A, Børresen-Dale A-L, et al. 2013. Signatures of mutational processes in human cancer. Nature 500: 415-421.
-
(2013)
Nature
, vol.500
, pp. 415-421
-
-
Alexandrov, L.B.1
Nik-Zainal, S.2
Wedge, D.C.3
Aparicio, S.A.J.R.4
Behjati, S.5
Biankin, A.V.6
Bignell, G.R.7
Bolli, N.8
Borg, A.9
Børresen-Dale, A.-L.10
-
6
-
-
84923164527
-
Crossovers are associated with mutation and biased gene conversion at recombination hotspots
-
Arbeithuber B, Betancourt AJ, Ebner T, Tiemann-Boege I. 2015. Crossovers are associated with mutation and biased gene conversion at recombination hotspots. Proc Natl Acad Sci 112: 2109-2114.
-
(2015)
Proc Natl Acad Sci
, vol.112
, pp. 2109-2114
-
-
Arbeithuber, B.1
Betancourt, A.J.2
Ebner, T.3
Tiemann-Boege, I.4
-
7
-
-
84861147700
-
Replication fork polarity gradients revealed by megabase-sized U-shaped replication timing domains in human cell lines
-
Baker A, Audit B, Chen C-L, Moindrot B, Leleu A, Guilbaud G, Rappailles A, Vaillant C, Goldar A, Mongelard F, et al. 2012. Replication fork polarity gradients revealed by megabase-sized U-shaped replication timing domains in human cell lines. PLoS Comput Biol 8: e1002443.
-
(2012)
PLoS Comput Biol
, vol.8
-
-
Baker, A.1
Audit, B.2
Chen, C.-L.3
Moindrot, B.4
Leleu, A.5
Guilbaud, G.6
Rappailles, A.7
Vaillant, C.8
Goldar, A.9
Mongelard, F.10
-
8
-
-
84955570124
-
Strand-biased cytosine deaminationat the replication fork causes cytosine to thy-mine mutations in Escherichia coli
-
Bhagwat AS, Hao W, Townes JP, Lee H, Tang H, Foster PL. 2016. Strand-biased cytosine deaminationat the replication fork causes cytosine to thy-mine mutations in Escherichia coli. Proc Natl Acad Sci 113: 2176-2181.
-
(2016)
Proc Natl Acad Sci
, vol.113
, pp. 2176-2181
-
-
Bhagwat, A.S.1
Hao, W.2
Townes, J.P.3
Lee, H.4
Tang, H.5
Foster, P.L.6
-
9
-
-
84874188583
-
APOBEC3B is an enzymatic source of mutation in breast cancer
-
Burns MB, Lackey L, Carpenter MA, Rathore A, Land AM, Leonard B, Refsland EW, Kotandeniya D, Tretyakova N, Nikas JB, et al. 2013a. APOBEC3B is an enzymatic source of mutation in breast cancer. Nature 494: 366-370.
-
(2013)
Nature
, vol.494
, pp. 366-370
-
-
Burns, M.B.1
Lackey, L.2
Carpenter, M.A.3
Rathore, A.4
Land, A.M.5
Leonard, B.6
Refsland, E.W.7
Kotandeniya, D.8
Tretyakova, N.9
Nikas, J.B.10
-
10
-
-
84883356320
-
Evidence for APOBEC3B mutagenesis in multiple human cancers
-
Burns MB, Temiz NA, Harris RS. 2013b. Evidence for APOBEC3B mutagenesis in multiple human cancers. Nat Genet 45: 977-983.
-
(2013)
Nat Genet
, vol.45
, pp. 977-983
-
-
Burns, M.B.1
Temiz, N.A.2
Harris, R.S.3
-
11
-
-
84887183068
-
The choice of nucleotide inserted opposite abasic sites formed within chromosomal DNA reveals the polymerase activities participating in translesion DNA synthesis
-
Chan K, Resnick MA, Gordenin DA. 2013. The choice of nucleotide inserted opposite abasic sites formed within chromosomal DNA reveals the polymerase activities participating in translesion DNA synthesis. DNA Repair 12: 878-889.
-
(2013)
DNA Repair
, vol.12
, pp. 878-889
-
-
Chan, K.1
Resnick, M.A.2
Gordenin, D.A.3
-
12
-
-
84940574759
-
An APOBEC3A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC3B in human cancers
-
Chan K, Roberts SA, Klimczak LJ, Sterling JF, Saini N, Malc EP, Kim J, Kwiatkowski DJ, Fargo DC, Mieczkowski PA, et al. 2015. An APOBEC3A hypermutation signature is distinguishable from the signature of background mutagenesis by APOBEC3B in human cancers. Nat Genet 47: 1067-1072.
-
(2015)
Nat Genet
, vol.47
, pp. 1067-1072
-
-
Chan, K.1
Roberts, S.A.2
Klimczak, L.J.3
Sterling, J.F.4
Saini, N.5
Malc, E.P.6
Kim, J.7
Kwiatkowski, D.J.8
Fargo, D.C.9
Mieczkowski, P.A.10
-
13
-
-
79961039218
-
Replication-associated mutational asymmetry in the human genome
-
Chen C-L, Duquenne L, Audit B, Guilbaud G, Rappailles A, Baker A, Huvet M, d'Aubenton-Carafa Y, Hyrien O, Arneodo A, et al. 2011. Replication-associated mutational asymmetry in the human genome. Mol Biol Evol 28: 2327-2337.
-
(2011)
Mol Biol Evol
, vol.28
, pp. 2327-2337
-
-
Chen, C.-L.1
Duquenne, L.2
Audit, B.3
Guilbaud, G.4
Rappailles, A.5
Baker, A.6
Huvet, M.7
D'Aubenton-Carafa, Y.8
Hyrien, O.9
Arneodo, A.10
-
14
-
-
84899889433
-
Repair of naturally occurring mismatches can induce mutations in flanking DNA
-
Chen J, Miller BF, Furano AV. 2014. Repair of naturally occurring mismatches can induce mutations in flanking DNA. eLife 3: e02001.
-
(2014)
ELife
, vol.3
-
-
Chen, J.1
Miller, B.F.2
Furano, A.V.3
-
15
-
-
0141542616
-
Decreased frequency and highly aberrant spectrum of ultraviolet-induced mutations in the hprt gene of mouse fibroblasts expressing antisense RNA to DNA polymerase ζ
-
Diaz M, Watson NB, Turkington G, Verkoczy LK, Klinman NR, McGregor WG. 2003. Decreased frequency and highly aberrant spectrum of ultraviolet-induced mutations in the hprt gene of mouse fibroblasts expressing antisense RNA to DNA polymerase ζ. Mol Cancer Res 1: 836-847.
-
(2003)
Mol Cancer Res
, vol.1
, pp. 836-847
-
-
Diaz, M.1
Watson, N.B.2
Turkington, G.3
Verkoczy, L.K.4
Klinman, N.R.5
McGregor, W.G.6
-
16
-
-
53549118586
-
Global organization of replication time zones of the mouse genome
-
Farkash-Amar S, Lipson D, Polten A, Goren A, Helmstetter C, Yakhini Z, Simon I. 2008. Global organization of replication time zones of the mouse genome. Genome Res 18: 1562-1570.
-
(2008)
Genome Res
, vol.18
, pp. 1562-1570
-
-
Farkash-Amar, S.1
Lipson, D.2
Polten, A.3
Goren, A.4
Helmstetter, C.5
Yakhini, Z.6
Simon, I.7
-
17
-
-
84937191220
-
Genome-wide patterns and properties of de novo mutations in humans
-
Francioli LC, Polak PP, Koren A, Menelaou A, Chun S, Renkens I, Genome of the Netherlands Consortium, van Duijn CM, Swertz M, Wijmenga C, et al. 2015. Genome-wide patterns and properties of de novo mutations in humans. Nat Genet 47: 822-826.
-
(2015)
Nat Genet
, vol.47
, pp. 822-826
-
-
Francioli, L.C.1
Polak, P.P.2
Koren, A.3
Menelaou, A.4
Chun, S.5
Renkens, I.6
Van Duijn, C.M.7
Swertz, M.8
Wijmenga, C.9
-
18
-
-
84975297904
-
Parent-of-origin-specific signatures of de novo mutations
-
Goldmann JM, Wong WSW, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LELM, Hoischen A, Roach JC, et al. 2016. Parent-of-origin-specific signatures of de novo mutations. Nat Genet 48: 935-939.
-
(2016)
Nat Genet
, vol.48
, pp. 935-939
-
-
Goldmann, J.M.1
Wong, W.S.W.2
Pinelli, M.3
Farrah, T.4
Bodian, D.5
Stittrich, A.B.6
Glusman, G.7
Vissers, L.E.L.M.8
Hoischen, A.9
Roach, J.C.10
-
19
-
-
0037380022
-
Transcription-associated mutational asymmetry in mammalian evolution
-
Green P, Ewing B, Miller W, Thomas PJ, NISC Comparative Sequencing Program, Green ED. 2003. Transcription-associated mutational asymmetry in mammalian evolution. Nat Genet 33: 514-517.
-
(2003)
Nat Genet
, vol.33
, pp. 514-517
-
-
Green, P.1
Ewing, B.2
Miller, W.3
Thomas, P.J.4
Green, E.D.5
-
20
-
-
84963612580
-
APOBEC3A damages the cellular genome during DNA replication
-
Green AM, Landry S, Budagyan K, Avgousti DC, Shalhout S, Bhagwat AS, Weitzman MD. 2016. APOBEC3A damages the cellular genome during DNA replication. Cell Cycle 15: 998-1008.
-
(2016)
Cell Cycle
, vol.15
, pp. 998-1008
-
-
Green, A.M.1
Landry, S.2
Budagyan, K.3
Avgousti, D.C.4
Shalhout, S.5
Bhagwat, A.S.6
Weitzman, M.D.7
-
21
-
-
84855272663
-
Evidence for sequential and increasing activation of replication origins along replication timing gradients in the human genome
-
Guilbaud G, Rappailles A, Baker A, Chen C-L, Arneodo A, Goldar A, d'Aubenton-Carafa Y, Thermes C, Audit B, Hyrien O. 2011. Evidence for sequential and increasing activation of replication origins along replication timing gradients in the human genome. PLoS Comput Biol 7: e1002322.
-
(2011)
PLoS Comput Biol
, vol.7
-
-
Guilbaud, G.1
Rappailles, A.2
Baker, A.3
Chen, C.-L.4
Arneodo, A.5
Goldar, A.6
D'Aubenton-Carafa, Y.7
Thermes, C.8
Audit, B.9
Hyrien, O.10
-
22
-
-
84955592205
-
Mutational strand asymmetries in cancer genomes reveal mechanisms of DNA damage and repair
-
Haradhvala NJ, Polak P, Stojanov P, Covington KR, Shinbrot E, Hess JM, Rheinbay E, Kim J, Maruvka YE, Braunstein LZ, et al. 2016. Mutational strand asymmetries in cancer genomes reveal mechanisms of DNA damage and repair. Cell 164: 538-549.
-
(2016)
Cell
, vol.164
, pp. 538-549
-
-
Haradhvala, N.J.1
Polak, P.2
Stojanov, P.3
Covington, K.R.4
Shinbrot, E.5
Hess, J.M.6
Rheinbay, E.7
Kim, J.8
Maruvka, Y.E.9
Braunstein, L.Z.10
-
23
-
-
84907225774
-
Error-prone polymerase activity causes multinu-cleotide mutations in humans
-
Harris K, Nielsen R. 2014. Error-prone polymerase activity causes multinu-cleotide mutations in humans. Genome Res 24: 1445-1454.
-
(2014)
Genome Res
, vol.24
, pp. 1445-1454
-
-
Harris, K.1
Nielsen, R.2
-
24
-
-
84906303775
-
Mechanisms underlying mutational signatures in human cancers
-
Helleday T, Eshtad S, Nik-Zainal S. 2014. Mechanisms underlying mutational signatures in human cancers. Nat Rev Genet 15: 585-598.
-
(2014)
Nat Rev Genet
, vol.15
, pp. 585-598
-
-
Helleday, T.1
Eshtad, S.2
Nik-Zainal, S.3
-
25
-
-
84908460595
-
Multiplatform analysis of 12 cancer types reveals molecular classification within and across tissues of origin
-
Hoadley KA, Yau C, Wolf DM, Cherniack AD, Tamborero D, Ng S, Leiserson MDM, Niu B, McLellan MD, Uzunangelov V, et al. 2014. Multiplatform analysis of 12 cancer types reveals molecular classification within and across tissues of origin. Cell 158: 929-944.
-
(2014)
Cell
, vol.158
, pp. 929-944
-
-
Hoadley, K.A.1
Yau, C.2
Wolf, D.M.3
Cherniack, A.D.4
Tamborero, D.5
Ng, S.6
Leiserson, M.D.M.7
Niu, B.8
McLellan, M.D.9
Uzunangelov, V.10
-
27
-
-
84955622630
-
APOBEC3A and APOBEC3B preferentially deaminate the lagging strand template during DNA replication
-
Hoopes JI, Cortez LM, Mertz TM, Malc EP, Mieczkowski PA, Roberts SA. 2016. APOBEC3A and APOBEC3B preferentially deaminate the lagging strand template during DNA replication. Cell Rep 14: 1273-1282.
-
(2016)
Cell Rep
, vol.14
, pp. 1273-1282
-
-
Hoopes, J.I.1
Cortez, L.M.2
Mertz, T.M.3
Malc, E.P.4
Mieczkowski, P.A.5
Roberts, S.A.6
-
28
-
-
80054724682
-
Mutation rate distribution inferred from coincident SNPs and coincident substitutions
-
Johnson PLF, Hellmann I. 2011. Mutation rate distribution inferred from coincident SNPs and coincident substitutions. Genome Biol Evol 3: 842-850.
-
(2011)
Genome Biol Evol
, vol.3
, pp. 842-850
-
-
Johnson, P.L.F.1
Hellmann, I.2
-
29
-
-
84905399319
-
Human APOBEC3 induced mutation of human immunodeficiency virus type-1 contributes to adaptation and evolution in natural infection
-
Kim E-Y, Lorenzo-Redondo R, Little SJ, Chung Y-S, Phalora PK, Maljkovic Berry I, Archer J, Penugonda S, Fischer W, Richman DD, et al. 2014. Human APOBEC3 induced mutation of human immunodeficiency virus type-1 contributes to adaptation and evolution in natural infection. PLoS Pathog 10: e1004281.
-
(2014)
PLoS Pathog
, vol.10
-
-
Kim, E.-Y.1
Lorenzo-Redondo, R.2
Little, S.J.3
Chung, Y.-S.4
Phalora, P.K.5
Maljkovic Berry, I.6
Archer, J.7
Penugonda, S.8
Fischer, W.9
Richman, D.D.10
-
30
-
-
84964603345
-
DNA editing of LTR retrotransposons reveals the impact of APOBECs on vertebrate genomes
-
Knisbacher BA, Levanon EY. 2016. DNA editing of LTR retrotransposons reveals the impact of APOBECs on vertebrate genomes. Mol Biol Evol 33: 554-567.
-
(2016)
Mol Biol Evol
, vol.33
, pp. 554-567
-
-
Knisbacher, B.A.1
Levanon, E.Y.2
-
31
-
-
84926285144
-
DNA polymerase ζ-dependent lesion bypass in saccharomyces cerevisiae is accompanied by error-prone copying of long stretches of adjacent DNA
-
Kochenova OV, Daee DL, Mertz TM, Shcherbakova PV. 2015. DNA polymerase ζ-dependent lesion bypass in Saccharomyces cerevisiae is accompanied by error-prone copying of long stretches of adjacent DNA. PLoS Genet 11: e1005110.
-
(2015)
PLoS Genet
, vol.11
-
-
Kochenova, O.V.1
Daee, D.L.2
Mertz, T.M.3
Shcherbakova, P.V.4
-
32
-
-
84865208871
-
Rate of de novo mutations and the importance of Father's age to disease risk
-
Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, Gudjonsson SA, Sigurdsson A, Jonasdottir A, Jonasdottir A, et al. 2012. Rate of de novo mutations and the importance of father's age to disease risk. Nature 488: 471-475.
-
(2012)
Nature
, vol.488
, pp. 471-475
-
-
Kong, A.1
Frigge, M.L.2
Masson, G.3
Besenbacher, S.4
Sulem, P.5
Magnusson, G.6
Gudjonsson, S.A.7
Sigurdsson, A.8
Jonasdottir, A.9
Jonasdottir, A.10
-
33
-
-
84911478082
-
Genetic variation in human DNA replication timing
-
Koren A, Handsaker RE, Kamitaki N, Karlic R, Ghosh S, Polak P, Eggan K, McCarroll SA. 2014. Genetic variation in human DNA replication timing. Cell 159: 1015-1026.
-
(2014)
Cell
, vol.159
, pp. 1015-1026
-
-
Koren, A.1
Handsaker, R.E.2
Kamitaki, N.3
Karlic, R.4
Ghosh, S.5
Polak, P.6
Eggan, K.7
McCarroll, S.A.8
-
34
-
-
84880507665
-
Mutational heterogeneity in cancer and the search for new cancer-associated genes
-
Lawrence MS, Stojanov P, Polak P, Kryukov GV, Cibulskis K, Sivachenko A, Carter SL, Stewart C, Mermel CH, Roberts SA, et al. 2013. Mutational heterogeneity in cancer and the search for new cancer-associated genes. Nature 499: 214-218.
-
(2013)
Nature
, vol.499
, pp. 214-218
-
-
Lawrence, M.S.1
Stojanov, P.2
Polak, P.3
Kryukov, G.V.4
Cibulskis, K.5
Sivachenko, A.6
Carter, S.L.7
Stewart, C.8
Mermel, C.H.9
Roberts, S.A.10
-
35
-
-
84868149427
-
Mismatch repair balances leading and lagging strand DNA replication fidelity
-
Lujan SA, Williams JS, Pursell ZF, Abdulovic-Cui AA, Clark AB, Nick McElhinny SA, Kunkel TA. 2012. Mismatch repair balances leading and lagging strand DNA replication fidelity. PLoS Genet 8: e1003016.
-
(2012)
PLoS Genet
, vol.8
-
-
Lujan, S.A.1
Williams, J.S.2
Pursell, Z.F.3
Abdulovic-Cui, A.A.4
Clark, A.B.5
Nick McElhinny, S.A.6
Kunkel, T.A.7
-
36
-
-
84923948943
-
Heterogeneous polymerase fidelity and mismatch repair bias genome variation and composition
-
Lujan SA, Clausen AR, Clark AB, MacAlpine HK, MacAlpine DM, Malc EP, Mieczkowski PA, Burkholder AB, Fargo DC, Gordenin DA, et al. 2014. Heterogeneous polymerase fidelity and mismatch repair bias genome variation and composition. Genome Res 24: 1751-1764.
-
(2014)
Genome Res
, vol.24
, pp. 1751-1764
-
-
Lujan, S.A.1
Clausen, A.R.2
Clark, A.B.3
MacAlpine, H.K.4
MacAlpine, D.M.5
Malc, E.P.6
Mieczkowski, P.A.7
Burkholder, A.B.8
Fargo, D.C.9
Gordenin, D.A.10
-
37
-
-
84942236803
-
Somatic mutation in cancer and normal cells
-
Martincorena I, Campbell PJ. 2015. Somatic mutation in cancer and normal cells. Science 349: 1483-1489.
-
(2015)
Science
, vol.349
, pp. 1483-1489
-
-
Martincorena, I.1
Campbell, P.J.2
-
38
-
-
84926320923
-
Demography and the age of rare variants
-
Mathieson I, McVean G. 2014. Demography and the age of rare variants. PLoS Genet 10: e1004528.
-
(2014)
PLoS Genet
, vol.10
-
-
Mathieson, I.1
McVean, G.2
-
40
-
-
84876523427
-
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes
-
Montgomery SB, Goode DL, Kvikstad E, Albers CA, Zhang ZD, Mu XJ, Ananda G, Howie B, Karczewski KJ, Smith KS, et al. 2013. The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res 23: 749-761.
-
(2013)
Genome Res
, vol.23
, pp. 749-761
-
-
Montgomery, S.B.1
Goode, D.L.2
Kvikstad, E.3
Albers, C.A.4
Zhang, Z.D.5
Mu, X.J.6
Ananda, G.7
Howie, B.8
Karczewski, K.J.9
Smith, K.S.10
-
41
-
-
84965121461
-
The topography of mutational processes in breast cancer genomes
-
Morganella S, Alexandrov LB, Glodzik D, Zou X, Davies H, Staaf J, Sieuwerts AM, Brinkman AB, Martin S, Ramakrishna M, et al. 2016. The topography of mutational processes in breast cancer genomes. Nat Commun 7: 11383.
-
(2016)
Nat Commun
, vol.7
-
-
Morganella, S.1
Alexandrov, L.B.2
Glodzik, D.3
Zou, X.4
Davies, H.5
Staaf, J.6
Sieuwerts, A.M.7
Brinkman, A.B.8
Martin, S.9
Ramakrishna, M.10
-
42
-
-
80052487023
-
Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 genomes project
-
Mu XJ, Lu ZJ, Kong Y, Lam HYK, Gerstein MB. 2011. Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project. Nucleic Acids Res 39: 7058-7076.
-
(2011)
Nucleic Acids Res
, vol.39
, pp. 7058-7076
-
-
Mu, X.J.1
Lu, Z.J.2
Kong, Y.3
Lam, H.Y.K.4
Gerstein, M.B.5
-
43
-
-
57749208708
-
Transcription-induced mutational strand bias and its effect on substitution rates in human genes
-
Mugal CF, von Grünberg H-H, Peifer M. 2009. Transcription-induced mutational strand bias and its effect on substitution rates in human genes. Mol Biol Evol 26: 131-142.
-
(2009)
Mol Biol Evol
, vol.26
, pp. 131-142
-
-
Mugal, C.F.1
Von Grünberg, H.-H.2
Peifer, M.3
-
44
-
-
84861541343
-
Mutational processes molding the genomes of 21 breast cancers
-
Nik-Zainal S, Alexandrov LB, Wedge DC, Van Loo P, Greenman CD, Raine K, Jones D, Hinton J, Marshall J, Stebbings LA, et al. 2012. Mutational processes molding the genomes of 21 breast cancers. Cell 149: 979-993.
-
(2012)
Cell
, vol.149
, pp. 979-993
-
-
Nik-Zainal, S.1
Alexandrov, L.B.2
Wedge, D.C.3
Van Loo, P.4
Greenman, C.D.5
Raine, K.6
Jones, D.7
Hinton, J.8
Marshall, J.9
Stebbings, L.A.10
-
45
-
-
84973594792
-
Landscape of somatic mutations in 560 breast cancer whole-genome sequences
-
Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D, Zou X, Martincorena I, Alexandrov LB, Martin S, Wedge DC, et al. 2016. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature 534: 47-54.
-
(2016)
Nature
, vol.534
, pp. 47-54
-
-
Nik-Zainal, S.1
Davies, H.2
Staaf, J.3
Ramakrishna, M.4
Glodzik, D.5
Zou, X.6
Martincorena, I.7
Alexandrov, L.B.8
Martin, S.9
Wedge, D.C.10
-
46
-
-
84902330913
-
Mutational context and diverse clonal development in early and late bladder cancer
-
Nordentoft I, Lamy P, Birkenkamp-Demtröder K, Shumansky K, Vang S, Hornshøj H, Juul M, Villesen P, Hedegaard J, Roth A, et al. 2014. Mutational context and diverse clonal development in early and late bladder cancer. Cell Rep 7: 1649-1663.
-
(2014)
Cell Rep
, vol.7
, pp. 1649-1663
-
-
Nordentoft, I.1
Lamy, P.2
Birkenkamp-Demtröder, K.3
Shumansky, K.4
Vang, S.5
Hornshøj, H.6
Juul, M.7
Villesen, P.8
Hedegaard, J.9
Roth, A.10
-
47
-
-
29644436410
-
Mutagenesis at methylated CpG sequences
-
Pfeifer GP 2006. Mutagenesis at methylated CpG sequences. Curr Top Microbiol Immunol 301: 259-281.
-
(2006)
Curr Top Microbiol Immunol
, vol.301
, pp. 259-281
-
-
Pfeifer, G.P.1
-
48
-
-
84964931472
-
Clustered mutations in hominid genome evolution are consistent with APOBEC3G enzymatic activity
-
Pinto Y, Gabay O, Arbiza L, Sams AJ, Keinan A, Levanon EY. 2016. Clustered mutations in hominid genome evolution are consistent with APOBEC3G enzymatic activity. Genome Res 26: 579-587.
-
(2016)
Genome Res
, vol.26
, pp. 579-587
-
-
Pinto, Y.1
Gabay, O.2
Arbiza, L.3
Sams, A.J.4
Keinan, A.5
Levanon, E.Y.6
-
49
-
-
74449093973
-
A comprehensive catalogue of somatic mutations from a human cancer genome
-
Pleasance ED, Cheetham RK, Stephens PJ, McBride DJ, Humphray SJ, Greenman CD, Varela I, Lin M-L, Ordóñez GR, Bignell GR, et al. 2010. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 463: 191-196.
-
(2010)
Nature
, vol.463
, pp. 191-196
-
-
Pleasance, E.D.1
Cheetham, R.K.2
Stephens, P.J.3
McBride, D.J.4
Humphray, S.J.5
Greenman, C.D.6
Varela, I.7
Lin, M.-L.8
Ordóñez, G.R.9
Bignell, G.R.10
-
50
-
-
48949094603
-
Transcription induces strand-specific mutations at the 5' end of human genes
-
Polak P, Arndt PF. 2008. Transcription induces strand-specific mutations at the 5' end of human genes. Genome Res 18: 1216-1223.
-
(2008)
Genome Res
, vol.18
, pp. 1216-1223
-
-
Polak, P.1
Arndt, P.F.2
-
51
-
-
84911431761
-
DNA recombination. Recombination initiation maps of individual human genomes
-
Pratto F, Brick K, Khil P, Smagulova F, Petukhova GV, Camerini-Otero RD. 2014. DNA recombination. Recombination initiation maps of individual human genomes. Science 346: 1256442.
-
(2014)
Science
, vol.346
-
-
Pratto, F.1
Brick, K.2
Khil, P.3
Smagulova, F.4
Petukhova, G.V.5
Camerini-Otero, R.D.6
-
52
-
-
84956620827
-
Timing, rates and spectra of human germline mutation
-
Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Al Turki S, Dominiczak A, Morris A, Porteous D, Smith B, et al. 2016. Timing, rates and spectra of human germline mutation. Nat Genet 48: 126-133.
-
(2016)
Nat Genet
, vol.48
, pp. 126-133
-
-
Rahbari, R.1
Wuster, A.2
Lindsay, S.J.3
Hardwick, R.J.4
Alexandrov, L.B.5
Al Turki, S.6
Dominiczak, A.7
Morris, A.8
Porteous, D.9
Smith, B.10
-
53
-
-
84883432724
-
An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers
-
Roberts SA, Lawrence MS, Klimczak LJ, Grimm SA, Fargo D, Stojanov P, Kiezun A, Kryukov GV, Carter SL, Saksena G, et al. 2013. An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers. Nat Genet 45: 970-976.
-
(2013)
Nat Genet
, vol.45
, pp. 970-976
-
-
Roberts, S.A.1
Lawrence, M.S.2
Klimczak, L.J.3
Grimm, S.A.4
Fargo, D.5
Stojanov, P.6
Kiezun, A.7
Kryukov, G.V.8
Carter, S.L.9
Saksena, G.10
-
54
-
-
84964803284
-
Mutational history of a human cell lineage from somatic to induced pluripotent stem cells
-
Rouhani FJ, Nik-Zainal S, Wuster A, Li Y, Conte N, Koike-Yusa H, Kumasaka N, Vallier L, Yusa K, Bradley A. 2016. Mutational history of a human cell lineage from somatic to induced pluripotent stem cells. PLoS Genet 12: e1005932.
-
(2016)
PLoS Genet
, vol.12
-
-
Rouhani, F.J.1
Nik-Zainal, S.2
Wuster, A.3
Li, Y.4
Conte, N.5
Koike-Yusa, H.6
Kumasaka, N.7
Vallier, L.8
Yusa, K.9
Bradley, A.10
-
55
-
-
84924341659
-
The RNA editing enzyme APOBEC1 induces somatic mutations and a compatible mutational signature is present in esophageal adenocarcinomas
-
Saraconi G, Severi F, Sala C, Mattiuz G, Conticello SG. 2014. The RNA editing enzyme APOBEC1 induces somatic mutations and a compatible mutational signature is present in esophageal adenocarcinomas. Genome Biol 15: 417.
-
(2014)
Genome Biol
, vol.15
, pp. 417
-
-
Saraconi, G.1
Severi, F.2
Sala, C.3
Mattiuz, G.4
Conticello, S.G.5
-
56
-
-
79959340504
-
Pervasive multinucleotide mutational events in eukaryotes
-
Schrider DR, Hourmozdi JN, Hahn MW. 2011. Pervasive multinucleotide mutational events in eukaryotes. Curr Biol 21: 1051-1054.
-
(2011)
Curr Biol
, vol.21
, pp. 1051-1054
-
-
Schrider, D.R.1
Hourmozdi, J.N.2
Hahn, M.W.3
-
57
-
-
84864712702
-
Heterogeneity of the transition/transversion ratio in drosophila and hominidae genomes
-
Seplyarskiy VB, Kharchenko P, Kondrashov AS, Bazykin GA. 2012. Heterogeneity of the transition/transversion ratio in Drosophila and Hominidae genomes. Mol Biol Evol 29: 1943-1955.
-
(2012)
Mol Biol Evol
, vol.29
, pp. 1943-1955
-
-
Seplyarskiy, V.B.1
Kharchenko, P.2
Kondrashov, A.S.3
Bazykin, G.A.4
-
58
-
-
84948692272
-
Polymerase ζ activity is linked to replication timing in humans: Evidence from mutational signatures
-
Seplyarskiy VB, Bazykin GA, Soldatov RA. 2015. Polymerase ζ activity is linked to replication timing in humans: evidence from mutational signatures. Mol Biol Evol 32: 3158-3172.
-
(2015)
Mol Biol Evol
, vol.32
, pp. 3158-3172
-
-
Seplyarskiy, V.B.1
Bazykin, G.A.2
Soldatov, R.A.3
-
59
-
-
84956905587
-
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication
-
Seplyarskiy VB, Soldatov RA, Popadin KY, Antonarakis SE, Bazykin GA, Nikolaev SI. 2016. APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication. Genome Res 26: 174-182.
-
(2016)
Genome Res
, vol.26
, pp. 174-182
-
-
Seplyarskiy, V.B.1
Soldatov, R.A.2
Popadin, K.Y.3
Antonarakis, S.E.4
Bazykin, G.A.5
Nikolaev, S.I.6
-
60
-
-
84942244408
-
The origins, determinants, and consequences of human mutations
-
Shendure J, Akey JM. 2015. The origins, determinants, and consequences of human mutations. Science 349: 1478-1483.
-
(2015)
Science
, vol.349
, pp. 1478-1483
-
-
Shendure, J.1
Akey, J.M.2
-
61
-
-
84903795949
-
A double-edged sword: R loops as threats to genome integrity and powerful regulators of gene expression
-
Skourti-Stathaki K, Proudfoot NJ. 2014. A double-edged sword: R loops as threats to genome integrity and powerful regulators of gene expression. Genes Dev 28: 1384-1396.
-
(2014)
Genes Dev
, vol.28
, pp. 1384-1396
-
-
Skourti-Stathaki, K.1
Proudfoot, N.J.2
-
62
-
-
84988869897
-
The DNA cytosine deaminase APOBEC3H haplotype I likely contributes to breast and lung cancer mutagenesis
-
Starrett GJ, Luengas EM, McCann JL, Ebrahimi D, Temiz NA, Love RP, Feng Y, Adolph MB, Chelico L, Law EK, et al. 2016. The DNA cytosine deaminase APOBEC3H haplotype I likely contributes to breast and lung cancer mutagenesis. Nat Commun 7: 12918.
-
(2016)
Nat Commun
, vol.7
-
-
Starrett, G.J.1
Luengas, E.M.2
McCann, J.L.3
Ebrahimi, D.4
Temiz, N.A.5
Love, R.P.6
Feng, Y.7
Adolph, M.B.8
Chelico, L.9
Law, E.K.10
-
63
-
-
84879061509
-
DNA deaminases induce break-associated mutation showers with implication of APOBEC3B and 3A in breast cancer kataegis
-
Taylor BJ, Nik-Zainal S, Wu YL, Stebbings LA, Raine K, Campbell PJ, Rada C, Stratton MR, Neuberger MS. 2013. DNA deaminases induce break-associated mutation showers with implication of APOBEC3B and 3A in breast cancer kataegis. eLife 2: e00534.
-
(2013)
ELife
, vol.2
-
-
Taylor, B.J.1
Nik-Zainal, S.2
Wu, Y.L.3
Stebbings, L.A.4
Raine, K.5
Campbell, P.J.6
Rada, C.7
Stratton, M.R.8
Neuberger, M.S.9
-
64
-
-
84877779728
-
Prevalence of multinucleotide replacements in evolution of primates and drosophila
-
Terekhanova NV, Bazykin GA, Neverov A, Kondrashov AS, Seplyarskiy VB. 2013. Prevalence of multinucleotide replacements in evolution of primates and Drosophila. Mol Biol Evol 30: 1315-1325.
-
(2013)
Mol Biol Evol
, vol.30
, pp. 1315-1325
-
-
Terekhanova, N.V.1
Bazykin, G.A.2
Neverov, A.3
Kondrashov, A.S.4
Seplyarskiy, V.B.5
-
66
-
-
84955601029
-
New observations on maternal age effect on germline de novo mutations
-
Wong WSW, Solomon BD, Bodian DL, Kothiyal P, Eley G, Huddleston KC, Baker R, Thach DC, Iyer RK, Vockley JG, et al. 2016. New observations on maternal age effect on germline de novo mutations. Nat Commun 7: 10486.
-
(2016)
Nat Commun
, vol.7
-
-
Wong, W.S.W.1
Solomon, B.D.2
Bodian, D.L.3
Kothiyal, P.4
Eley, G.5
Huddleston, K.C.6
Baker, R.7
Thach, D.C.8
Iyer, R.K.9
Vockley, J.G.10
-
67
-
-
84937884710
-
Parent-progeny sequencing indicates higher mutation rates in heterozygotes
-
Yang S, Wang L, Huang J, Zhang X, Yuan Y, Chen J-Q, Hurst LD, Tian D. 2015. Parent-progeny sequencing indicates higher mutation rates in heterozygotes. Nature 523: 463-467.
-
(2015)
Nature
, vol.523
, pp. 463-467
-
-
Yang, S.1
Wang, L.2
Huang, J.3
Zhang, X.4
Yuan, Y.5
Chen, J.-Q.6
Hurst, L.D.7
Tian, D.8
-
68
-
-
85028621089
-
Genome-wide characteristics of de novo mutations in autism
-
Yuen RK, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, et al. 2016. Genome-wide characteristics of de novo mutations in autism. NPJ Genom Med 1: 16027.
-
(2016)
NPJ Genom Med
, vol.1
-
-
Yuen, R.K.1
Merico, D.2
Cao, H.3
Pellecchia, G.4
Alipanahi, B.5
Thiruvahindrapuram, B.6
Tong, X.7
Sun, Y.8
Cao, D.9
Zhang, T.10
-
69
-
-
84924577185
-
Concurrent nucleotide substitution mutations in the human genome are characterized by a significantly decreased transition/transversion ratio
-
Zhu W, Cooper DN, Zhao Q, Wang Y, Liu R, Li Q, Férec C, Wang Y, Chen JM. 2015. Concurrent nucleotide substitution mutations in the human genome are characterized by a significantly decreased transition/transversion ratio. Hum Mutat 36: 333-341.
-
(2015)
Hum Mutat
, vol.36
, pp. 333-341
-
-
Zhu, W.1
Cooper, D.N.2
Zhao, Q.3
Wang, Y.4
Liu, R.5
Li, Q.6
Férec, C.7
Wang, Y.8
Chen, J.M.9
|