Somatic Mutagenesis in Mammals and Its Implications for Human Disease and Aging

Initial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216

A global reference for human genetic variation

The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature · doi:10.1038/nature15393 · Cited by 18,247

The Hallmarks of Aging

López-Otín, C., Blasco, M. A., Partridge, L., Serrano, M., & Kroemer, G. (2013) · Cell · doi:10.1016/j.cell.2013.05.039 · Cited by 14,982

Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid

WATSON, J. D., & CRICK, F. H. C. (1953) · Nature · doi:10.1038/171737a0 · Cited by 13,584

Signatures of mutational processes in human cancer

Initiative, A. P. C. G., Alexandrov, L. B., ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, PedBrain, I., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A. J. R., Behjati, S., Biankin, A. V., et al. (2013) · Nature · doi:10.1038/nature12477 · Cited by 9,660

The Clonal Evolution of Tumor Cell Populations: Acquired genetic lability permits stepwise selection of variant sublines and underlies tumor progression.

Nowell, P. C. (1976) · Science · doi:10.1126/science.959840 · Cited by 6,471

Instability and decay of the primary structure of DNA

Lindahl, T. (1993) · Nature · doi:10.1038/362709a0 · Cited by 5,679

Genome maintenance mechanisms for preventing cancer

Hoeijmakers, J. H. J. (2001) · Nature · doi:10.1038/35077232 · Cited by 3,939

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.

Pinkel, D., Straume, T., & Gray, J. W. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.9.2934 · Cited by 3,236

Microsatellites: simple sequences with complex evolution

Ellegren, H. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1348 · Cited by 2,429

Genomic instability — an evolving hallmark of cancer

Negrini, S., Gorgoulis, V. G., & Halazonetis, T. D. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2858 · Cited by 2,397

Rate of de novo mutations and the importance of father’s age to disease risk

Kong, A., Frigge, M. L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., Gudjonsson, S. A., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., et al. (2012) · Nature · doi:10.1038/nature11396 · Cited by 2,134

Structural variation in the human genome

Feuk, L., Carson, A. R., & Scherer, S. W. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1767 · Cited by 2,111

Evolution of ageing

Kirkwood, T. B. L. (1977) · Nature · doi:10.1038/270301a0 · Cited by 2,007

Understanding the odd science of aging

Kirkwood, T. B. L. (2005) · Cell · doi:10.1016/j.cell.2005.01.027 · Cited by 1,984

High burden and pervasive positive selection of somatic mutations in normal human skin

Martincorena, I., Roshan, A., Gerstung, M., Ellis, P., Van Loo, P., McLaren, S., Wedge, D. C., Fullam, A., Alexandrov, L. B., Tubio, J. M., et al. (2015) · Science · doi:10.1126/science.aaa6806 · Cited by 1,770

Multicolor Spectral Karyotyping of Human Chromosomes

Schröck, E., du Manoir, S., Veldman, T., Schoell, B., Wienberg, J., Ferguson-Smith, M. A., Ning, Y., Ledbetter, D. H., Bar‐Am, I., Soenksen, D. G., et al. (1996) · Science · doi:10.1126/science.273.5274.494 · Cited by 1,753

Genome structural variation discovery and genotyping

Alkan, C., Coe, B. P., & Eichler, E. E. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2958 · Cited by 1,630

The impact of translocations and gene fusions on cancer causation

Mitelman, F., Johansson, B., & Mertens, F. (2007) · Nature Reviews Cancer · doi:10.1038/nrc2091 · Cited by 1,400

Somatic mutation in cancer and normal cells

Martincorena, I., & Campbell, P. J. (2015) · Science · doi:10.1126/science.aab4082 · Cited by 1,396

Meiotic catastrophe and retrotransposon reactivation in male germ cells lacking Dnmt3L

Bourc’his, D., & Bestor, T. H. (2004) · Nature · doi:10.1038/nature02886 · Cited by 1,279

Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell

Zong, C., Lu, S., Chapman, A. R., & Xie, X. S. (2012) · Science · doi:10.1126/science.1229164 · Cited by 1,154

Tissue-specific mutation accumulation in human adult stem cells during life

Blokzijl, F., de Ligt, J., Jager, M., Sasselli, V., Roerink, S., Sasaki, N., Huch, M., Boymans, S., Kuijk, E., Prins, P., et al. (2016) · Nature · doi:10.1038/nature19768 · Cited by 935

Genetic drift, selection and the evolution of the mutation rate

Lynch, M., Ackerman, M. S., Gout, J.-F., Long, H., Sung, W., Thomas, W. K., & Foster, P. L. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.104 · Cited by 911

Chromosome instability is common in human cleavage-stage embryos

Vanneste, E., Voet, T., Le Caignec, C., Ampe, M., Konings, P., Melotte, C., Debrock, S., Amyere, M., Vikkula, M., Schuit, F., et al. (2009) · Nature Medicine · doi:10.1038/nm.1924 · Cited by 880

Complex landscapes of somatic rearrangement in human breast cancer genomes

Stephens, P. J., McBride, D. J., Lin, M., Varela, I., Pleasance, E., Simpson, J. T., Stebbings, L. A., Leroy, C., Edkins, S., Mudie, L. J., et al. (2009) · Nature · doi:10.1038/nature08645 · Cited by 850

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

Campbell, P. J., Stephens, P. J., Pleasance, E., O’Meara, S., Li, H., Santarius, T., Stebbings, L. A., Leroy, C., Edkins, S., Hardy, C. W., et al. (2008) · Nature Genetics · doi:10.1038/ng.128 · Cited by 827

Landscape of Somatic Retrotransposition in Human Cancers

Lee, E., Iskow, R., Yang, L., Gokcumen, O., Haseley, P., Luquette, L. J., Lohr, J. G., Harris, C. C., Ding, L., Wilson, R. K., et al. (2012) · Science · doi:10.1126/science.1222077 · Cited by 762

Retrotransposons Revisited: The Restraint and Rehabilitation of Parasites

Goodier, J. L., & Kazazian, H. H. (2008) · Cell · doi:10.1016/j.cell.2008.09.022 · Cited by 659

On the nature of the aging process

Szilard, L. (1959) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.45.1.30 · Cited by 651

A genomic view of mosaicism and human disease

Biesecker, L. G., & Spinner, N. B. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3424 · Cited by 635

Aging and neurodegeneration are associated with increased mutations in single human neurons

Lodato, M. A., Rodin, R. E., Bohrson, C. L., Coulter, M. E., Barton, A. R., Kwon, M., Sherman, M. A., Vitzthum, C. M., Luquette, L. J., Yandava, C. N., et al. (2018) · Science · doi:10.1126/science.aao4426 · Cited by 635

LINE-1 elements in structural variation and disease

Beck, C. R., Garcia-Perez, J. L., Badge, R. M., & Moran, J. V. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141802 · Cited by 615

DNA Replication Precedes Neuronal Cell Death in Alzheimer's Disease

Yang, Y., Geldmacher, D., & Herrup, K. (2001) · Journal of Neuroscience · doi:10.1523/jneurosci.21-08-02661.2001 · Cited by 609

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

Bruder, C. E. G., Piotrowski, A., Gijsbers, A. C. J., Andersson, R., Erickson, S. W., de Ståhl, T. D., Menzel, U., Sandgren, J., von Tell, D., Poplawski, A. B., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.011 · Cited by 606

Detectable clonal mosaicism from birth to old age and its relationship to cancer

Laurie, C. C., Laurie, C. A., Rice, K., Doheny, K. F., Zelnick, L. R., McHugh, C. P., Ling, H., Hetrick, K. N., Pugh, E. W., Amos, C., et al. (2012) · Nature Genetics · doi:10.1038/ng.2271 · Cited by 594

Active human retrotransposons: variation and disease

Hancks, D. C., & Kazazian, H. H. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.02.006 · Cited by 592

Detectable clonal mosaicism and its relationship to aging and cancer

Jacobs, K. B., Yeager, M., Zhou, W., Wacholder, S., Wang, Z., Rodriguez-Santiago, B., Hutchinson, A., Deng, X., Liu, C., Horner, M.-J., et al. (2012) · Nature Genetics · doi:10.1038/ng.2270 · Cited by 589

Somatic mutation, genomic variation, and neurological disease

Poduri, A., Evrony, G. D., Cai, X., & Walsh, C. A. (2013) · Science · doi:10.1126/science.1237758 · Cited by 584

Variation in genome-wide mutation rates within and between human families

the 1000 Genomes Project (2011) · Nature Genetics · doi:10.1038/ng.862 · Cited by 581

Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer.

Miki, Y., Nishisho, I., Horii, A., Miyoshi, Y., Utsunomiya, J., Kinzler, K. W., Vogelstein, B., & Nakamura, Y. (1992) · PubMed · Cited by 564

Mosaic Copy Number Variation in Human Neurons

McConnell, M. J., Lindberg, M. R., Brennand, K. J., Piper, J. C., Voet, T., Cowing-Zitron, C., Shumilina, S., Lasken, R. S., Vermeesch, J. R., Hall, I. M., et al. (2013) · Science · doi:10.1126/science.1243472 · Cited by 551

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

Evrony, G. D., Cai, X., Lee, E., Hills, L. B., Elhosary, P. C., Lehmann, H. S., Parker, J. J., Atabay, K. D., Gilmore, E. C., Poduri, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.09.035 · Cited by 548

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Dewey, F. E., Murray, M. F., Overton, J. D., Habegger, L., Leader, J. B., Fetterolf, S. N., O’Dushlaine, C. T., Hout, C. V. V., Staples, J. C., Gonzaga-Jauregui, C. G., et al. (2016) · Science · doi:10.1126/science.aaf6814 · Cited by 545

The ploidy conveyor of mature hepatocytes as a source of genetic variation

Duncan, A. W., Taylor, M. H., Hickey, R. D., Hanlon Newell, A. E., Lenzi, M. L., Olson, S. B., Finegold, M. J., & Grompe, M. (2010) · Nature · doi:10.1038/nature09414 · Cited by 525

Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm

Wang, J., Fan, H. C., Behr, B. R., & Quake, S. R. (2012) · Cell · doi:10.1016/j.cell.2012.06.030 · Cited by 521

Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization

Wells, D. (2000) · Molecular Human Reproduction · doi:10.1093/molehr/6.11.1055 · Cited by 503

The impact of structural variation on human gene expression

GTEx Consortium, Chiang, C., Scott, A. J., Davis, J. R., Tsang, E. K., Li, X., Kim, Y., Hadzic, T., Damani, F. N., Ganel, L., et al. (2017) · Nature Genetics · doi:10.1038/ng.3834 · Cited by 495

Efficient rescue of integrated shuttle vectors from transgenic mice: a model for studying mutations in vivo.

Gossen, J. A., de Leeuw, W. J., Tan, C. H., Zwarthoff, E. C., Berends, F., Lohman, P. H. M., Knook, D. L., & Vijg, J. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.20.7971 · Cited by 494

Mutation rate variation in multicellular eukaryotes: causes and consequences

Baer, C. F., Miyamoto, M. M., & Denver, D. R. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2158 · Cited by 475

Repeat unit sequence variation in minisatellites: A novel source of DNA polymorphism for studying variation and mutation by single molecule analysis

Jeffreys, A. J., Neumann, R., & Wilson, V. (1990) · Cell · doi:10.1016/0092-8674(90)90598-9 · Cited by 440

Restricting retrotransposons: a review

Goodier, J. L. (2016) · Mobile DNA · doi:10.1186/s13100-016-0070-z · Cited by 436

Differences between germline and somatic mutation rates in humans and mice

Milholland, B., Dong, X., Zhang, L., Hao, X., Suh, Y., & Vijg, J. (2017) · Nature Communications · doi:10.1038/ncomms15183 · Cited by 429

Single-cell whole-genome analyses by Linear Amplification via Transposon Insertion (LIANTI)

Chen, C., Xing, D., Tan, L., Li, H., Zhou, G., Huang, L., & Xie, X. S. (2017) · Science · doi:10.1126/science.aak9787 · Cited by 388

T-cell cloning to detect the mutant 6-thioguanine-resistant lymphocytes present in human peripheral blood.

Albertini, R. J., Castle, K. L., & Borcherding, W. (1982) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.79.21.6617 · Cited by 386

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

Abyzov, A. S., Mariani, J., Palejev, D., Zhang, Y., Haney, M. S., Tomasini, L., Ferrandino, A. F., Belmaker, L. R., Szekely, A. M., Wilson, M., et al. (2012) · Nature · doi:10.1038/nature11629 · Cited by 385

L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicismPreprint

Kano, H., Godoy, I., Courtney, C., Vetter, M. R., Gerton, G. L., Ostertag, E. M., & Kazazian, H. H. (2009) · Genes & Development · doi:10.1101/gad.1803909 · Cited by 368

Fusion genes and rearranged genes as a linear function of chromosome aberrations in cancer

Mitelman, F., Johansson, B., & Mertens, F. (2004) · Nature Genetics · doi:10.1038/ng1335 · Cited by 361

Genome sequencing of normal cells reveals developmental lineages and mutational processes

Behjati, S., Huch, M., van Boxtel, R., Karthaus, W., Wedge, D. C., Tamuri, A. U., Martincorena, I., Petljak, M., Alexandrov, L. B., Gundem, G., et al. (2014) · Nature · doi:10.1038/nature13448 · Cited by 357

Chromosomal variation in neurons of the developing and adult mammalian nervous system

Rehen, S. K., McConnell, M. J., Kaushal, D., Kingsbury, M. A., Yang, A. H., & Chun, J. J. M. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.231487398 · Cited by 334

Diverse Mechanisms of Somatic Structural Variations in Human Cancer Genomes

Yang, L., Luquette, L. J., Gehlenborg, N., Xi, R., Haseley, P. S., Hsieh, C.-H., Zhang, C., Ren, X., Protopopov, A. I., Chin, L., et al. (2013) · Cell · doi:10.1016/j.cell.2013.04.010 · Cited by 329

Mechanism of chimera formation during the Multiple Displacement Amplification reaction

Lasken, R. S., & Stockwell, T. B. (2007) · BMC Biotechnology · doi:10.1186/1472-6750-7-19 · Cited by 328

Ubiquitous L1 Mosaicism in Hippocampal Neurons

Upton, K. R., Gerhardt, D. J., Jesuadian, J. S., Richardson, S. R., Sánchez-Luque, F. J., Bodea, G. O., Ewing, A. D., Salvador-Palomeque, C., van der Knaap, M. S., Brennan, P. M., et al. (2015) · Cell · doi:10.1016/j.cell.2015.03.026 · Cited by 320

Constitutional Aneuploidy in the Normal Human Brain

Rehen, S. K., Yung, Y. C., McCreight, M. P., Kaushal, D., Yang, A. H., Almeida, B. S. V., Kingsbury, M. A., Cabral, K. M. D. S., McConnell, M. J., Anliker, B., et al. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.4560-04.2005 · Cited by 319

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain

Cai, X., Evrony, G. D., Lehmann, H. S., Elhosary, P. C., Mehta, B. K., Poduri, A., & Walsh, C. A. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.07.043 · Cited by 318

Single cell sequencing reveals low levels of aneuploidy across mammalian tissues

Knouse, K. A., Wu, J., Whittaker, C. A., & Amon, A. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1415287111 · Cited by 314

Are we sure we know how to measure 8-oxo-7,8-dihydroguanine in DNA from human cells?

Collins, A. R., Cadet, J., Möller, L., Poulsen, H. E., & Viña, J. (2004) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2003.12.022 · Cited by 312

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing

Alioto, T., Buchhalter, I., Derdak, S. V., Hutter, B., Eldridge, M., Hovig, E. J., Heisler, L. E., Beck, T. A., Simpson, J. T., Tonon, L., et al. (2015) · Nature Communications · doi:10.1038/ncomms10001 · Cited by 312

Multicolour spectral karyotyping of mouse chromosomes

Liyanage, M., Coleman, A., du Manoir, S., Veldman, T., McCormack, S. J., Dickson, R. B., Barlow, C., Wynshaw-Boris, A. J., Janz, S., Wienberg, J., et al. (1996) · Nature Genetics · doi:10.1038/ng1196-312 · Cited by 306

Mismatch Repair Deficiency in Phenotypically Normal Human Cells

Parsons, R. E., Li, G., Longley, M. J., Modrich, P. L., Liu, B., Berk, T., Hamilton, S. R., Kinzler, K. W., & Vogelstein, B. (1995) · Science · doi:10.1126/science.7632227 · Cited by 305

Properties and rates of germline mutations in humans

Campbell, C. D., & Eichler, E. E. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.04.005 · Cited by 292

Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation, (FISH)

Delhanty, J. D. A., Griffin, D. K., Handyside, A., Harper, J. C., Atkinson, G., Pieters, M. H. E. C., & Winston, R. M. L. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.8.1183 · Cited by 292

The effects of age and lifestyle factors on the accumulation of cytogenetic damage as measured by chromosome painting

Ramsey, M. J., Moore, D. H., Briner, J. F., Lee, D. A., Olsen, L. A., Senft, J. R., & Tucker, J. D. (1995) · Mutation Research/DNAging · doi:10.1016/0921-8734(95)00015-x · Cited by 278

Aneuploidy and DNA Replication in the Normal Human Brain and Alzheimer's Disease

Mosch, B., Morawski, M., Mittag, A., Lenz, D., Tárnok, A., & Arendt, T. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.0379-07.2007 · Cited by 273

Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis

Bae, T., Tomasini, L., Mariani, J., Zhou, B., Roychowdhury, T., Franjic, D., Pletikos, M., Pattni, R., Chen, B.-J., Venturini, E., et al. (2017) · Science · doi:10.1126/science.aan8690 · Cited by 267

Development and validation of a next-generation sequencing–based protocol for 24-chromosome aneuploidy screening of embryos

Fiorentino, F., Biricik, A., Bono, S., Spizzichino, L., Cotroneo, E., Cottone, G., Kokocinski, F., & Michel, C.-E. (2014) · Fertility and Sterility · doi:10.1016/j.fertnstert.2014.01.051 · Cited by 250

Rapid accumulation of genome rearrangements in liver but not in brain of old mice

Dollé, M. E. T., Giese, H., Hopkins, C. L., Martus, H., Hausdorff, J. M., & Vijg, J. (1997) · Nature Genetics · doi:10.1038/ng1297-431 · Cited by 248

Distinct spectra of somatic mutations accumulated with age in mouse heart and small intestine

Dollé, M. E. T., Snyder, W. K., Gossen, J. A., Lohman, P. H. M., & Vijg, J. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.15.8403 · Cited by 246

Accurate identification of single-nucleotide variants in whole-genome-amplified single cells

Dong, X., Zhang, L., Milholland, B., Lee, M., Maslov, A. Y., Wang, T., & Vijg, J. (2017) · Nature Methods · doi:10.1038/nmeth.4227 · Cited by 235

Aneuploidy and Confined Chromosomal Mosaicism in the Developing Human Brain

Yurov, Y. B., Iourov, I. Y., Vorsanova, S. G., Liehr, T., Kolotii, A. D., Kutsev, S. I., Pellestor, F., Beresheva, A. K., Ia, D., Сергеевич, К. В., et al. (2007) · PLoS ONE · doi:10.1371/journal.pone.0000558 · Cited by 226

Somatic gene mutation and human disease other than cancer: An update

Erickson, R. P. (2010) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2010.04.002 · Cited by 218

THE AGING PROCESS AND CANCEROGENESIS

Failla, G. (1958) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1958.tb46828.x · Cited by 215

The germ-plasm : a theory of heredity /

Weismann, A. (1893) · doi:10.5962/bhl.title.168967 · Cited by 210

Frequent Aneuploidy Among Normal Human Hepatocytes

Duncan, A. W., Hanlon Newell, A. E., Smith, L., Wilson, E. M., Olson, S. B., Thayer, M. J., Strom, S. C., & Grompe, M. (2012) · Gastroenterology · doi:10.1053/j.gastro.2011.10.029 · Cited by 197

L1-associated genomic regions are deleted in somatic cells of the healthy human brain

Erwin, J. A., Paquola, A. C. M., Singer, T., Gallina, I., Novotny, M., Quayle, C., Bedrosian, T. A., Alves, F. I. A., Butcher, C. R., Herdy, J. R., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4388 · Cited by 195

Aneuploidy, polyploidy and ploidy reversal in the liver

Duncan, A. W. (2013) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2013.01.003 · Cited by 193

Rates and Fitness Consequences of New Mutations in Humans

Keightley, P. D. (2012) · Genetics · doi:10.1534/genetics.111.134668 · Cited by 189

Aneuploidy as a mechanism for stress-induced liver adaptation

Duncan, A. W., Newell, A. E. H., Bi, W., Finegold, M. J., Olson, S. B., Beaudet, A. L., & Grompe, M. (2012) · Journal of Clinical Investigation · doi:10.1172/jci64026 · Cited by 187

Age-related somatic structural changes in the nuclear genome of human blood cells

Forsberg, L. A., Rasi, C., Razzaghian, H. R., Pakalapati, G., Waite, L., Thilbeault, K. S., Ronowicz, A., Wineinger, N. E., Tiwari, H. K., Boomsma, D., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.009 · Cited by 176

Essays on Evolution. I. On the Effects of Selection on Mutation Rate

Sturtevant, A. H. (1937) · The Quarterly Review of Biology · doi:10.1086/394543 · Cited by 170

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

Machiela, M. J., Zhou, W., Karlins, E., Sampson, J. N., Freedman, N. D., Yang, Q., Hicks, B. D., Dagnall, C. L., Hautman, C., Jacobs, K. B., et al. (2016) · Nature Communications · doi:10.1038/ncomms11843 · Cited by 167

Resolving rates of mutation in the brain using single-neuron genomics

Evrony, G. D., Lee, E., Park, P. J., & Walsh, C. A. (2016) · eLife · doi:10.7554/elife.12966 · Cited by 163

High resolution array-CGH analysis of single cells

Fiegler, H., Geigl, J. B., Langer, S., Rigler, D., Porter, K., Unger, K., Carter, N. P., & Speicher, M. R. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl1030 · Cited by 149

Single-cell whole genome sequencing reveals no evidence for common aneuploidy in normal and Alzheimer’s disease neurons

van den Bos, H., Spierings, D. C. J., Taudt, A., Bakker, B., Porubskỳ, D., Falconer, E., Novoa, C. A., Halsema, N., Kazemier, H. G., Hoekstra-Wakker, K., et al. (2016) · Genome biology · doi:10.1186/s13059-016-0976-2 · Cited by 139

Mitotic recombination produces the majority of recessive fibroblast variants in heterozygous mice

Shao, C., Deng, L., Henegariu, O., Liang, L., Raikwar, N. S., Sahota, A. S., Stambrook, P. J., & Tischfield, J. A. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.16.9230 · Cited by 132

Reprogramming triggers endogenous L1 and Alu retrotransposition in human induced pluripotent stem cells

Jung‐Klawitter, S., Fuchs, N. V., Upton, K. R., Muñoz-López, M., Shukla, R., Wang, J., García-Cañadas, M., Lopez‐Ruiz, C., Gerhardt, D. J., Sebe, A., et al. (2016) · Nature Communications · doi:10.1038/ncomms10286 · Cited by 131

Age-related somatic mutations in the cancer genome

Milholland, B., Auton, A., Suh, Y., & Vijg, J. (2015) · Oncotarget · doi:10.18632/oncotarget.5685 · Cited by 130

Somatic mutagenesis in satellite cells associates with human skeletal muscle aging

Franco, I., Johansson, A., Olsson, K., Vrtačnik, P., Lundin, P., Helgadottir, H. T., Larsson, M., Revêchon, G., Bosia, C., Pagnani, A., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03244-6 · Cited by 128

Analysis of somatic microsatellite indels identifies driver events in human tumors

Maruvka, Y. E., Mouw, K. W., Karlić, R., Parasuraman, P., Kamburov, A., Polak, P. P., Haradhvala, N. J., Hess, J. M., Rheinbay, E., Brody, Y., et al. (2017) · Nature Biotechnology · doi:10.1038/nbt.3966 · Cited by 126

Retrotransposition of gene transcripts leads to structural variation in mammalian genomes

Ewing, A. D., Ballinger, T. J., Earl, D. A., Harris, C. C., Ding, L., Wilson, R. K., & Haussler, D. H. (2013) · Genome biology · doi:10.1186/gb-2013-14-3-r22 · Cited by 118

Single cell analysis of cancer genomes

Loo, P. V., & Voet, T. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.12.004 · Cited by 118

Mutational History of a Human Cell Lineage from Somatic to Induced Pluripotent Stem Cells

Rouhani, F. J., Nik‐Zainal, S., Wüster, A., Li, Y., Conte, N., Koike-Yusa, H., Kumasaka, N., Vallier, L., Yusa, K., & Bradley, A. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1005932 · Cited by 113

A Unifying Concept of the Etiology of the Leukemias, Lymphomas, and Cancers 2

Osgood, E. E. (1957) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/18.2.155 · Cited by 110

Assessment of megabase-scale somatic copy number variation using single-cell sequencingPreprint

Knouse, K. A., Wu, J., & Amon, A. (2016) · Genome Research · doi:10.1101/gr.198937.115 · Cited by 108

Chromosome 17 and 21 aneuploidy in buccal cells is increased with ageing and in Alzheimer's disease

Thomas, P., & Fenech, M. F. (2007) · Mutagenesis · doi:10.1093/mutage/gem044 · Cited by 107

Optimum mutation rate and degree of dominance as determined by the principle of minimum genetic load

Kimura, M. (1960) · Journal of Genetics · doi:10.1007/bf02985336 · Cited by 105

Mutation Frequency and Specificity With Age in Liver, Bladder and Brain of lacI Transgenic Mice

Stuart, G. R., Oda, Y., de Boer, J. G., & Glickman, B. W. (2000) · Genetics · doi:10.1093/genetics/154.3.1291 · Cited by 102

A unified classification system for eukaryotic transposable elements should reflect their phylogeny

Seberg, O., & Petersen, G. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2165-c3 · Cited by 101

The onset of selection

Duve, C. D. (2005) · Nature · doi:10.1038/433581a · Cited by 100

Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses

Treff, N. R., Su, J., Tao, X., Northrop, L. E., & Scott, R. T. (2010) · Molecular Human Reproduction · doi:10.1093/molehr/gaq103 · Cited by 99

Chromosome-specific accumulation of aneuploidy in the aging mouse brain

Faggioli, F., Wang, T., Vijg, J., & Montagna, C. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds375 · Cited by 96

Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads

Moncunill, V., González, S., Beà, S., Andrieux, L. O., Salaverría, I., Royo, C., Martinez, L., Puiggròs, M., Segura‐Wang, M., Stütz, A. M., et al. (2014) · Nature Biotechnology · doi:10.1038/nbt.3027 · Cited by 93

Age-associated increase of spontaneous mutant frequency and molecular nature of mutation in newborn and old lacZ-transgenic mouse

Ono, T., Ikehata, H., Nakamura, S., Saito, Y., Hosoi, Y., Takai, Y., Yamada, S., Onodera, J., & Yamamoto, K. (2000) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/s0027-5107(99)00200-6 · Cited by 89

Mutational fingerprints of aging

Dolle, M. E. T. (2002) · Nucleic Acids Research · doi:10.1093/nar/30.2.545 · Cited by 87

Direct mutation analysis by high-throughput sequencing: From germline to low-abundant, somatic variants

Gundry, M. C., & Vijg, J. (2011) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2011.10.001 · Cited by 86

Identification of genomic indels and structural variations using split reads

Zhang, Z. D., Du, J., Lam, H. Y. K., Abyzov, A. S., Urban, A. E., Snyder, M. P., & Gerstein, M. (2011) · BMC Genomics · doi:10.1186/1471-2164-12-375 · Cited by 84

Structural mutations in cancer: mechanistic and functional insights

Inaki, K., & Liu, E. T. (2012) · Trends in Genetics · doi:10.1016/j.tig.2012.07.002 · Cited by 75

History and evolution of cytogenetics

Ferguson-Smith, M. A. (2015) · Molecular Cytogenetics · doi:10.1186/s13039-015-0125-8 · Cited by 74

One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative originPreprint

Abyzov, A. S., Tomasini, L., Zhou, B., Vasmatzis, N., Coppola, G., Amenduni, M., Pattni, R., Wilson, M., Gerstein, M., Weissman, S. M., et al. (2017) · Genome Research · doi:10.1101/gr.215517.116 · Cited by 74

Genome Dynamics in Aging Mice

Dollé, M. E. T., & Vijg, J. (2002) · Genome Research · doi:10.1101/gr.125502 · Cited by 66

Chromosomal aneuploidy in the aging brain

Faggioli, F., Vijg, J., & Montagna, C. (2011) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2011.04.008 · Cited by 64

CIN and Aneuploidy: Different Concepts, Different Consequences

Schukken, K. M., & Foijer, F. (2017) · BioEssays · doi:10.1002/bies.201700147 · Cited by 63

Aging of the Genome

Vijg, J. (2007) · doi:10.1093/acprof:oso/9780198569237.001.0001 · Cited by 63

Tissue-specific in vivo genetic toxicity of nine polycyclic aromatic hydrocarbons assessed using the Muta™Mouse transgenic rodent assay

Long, A. S., Lemieux, C. L., Arlt, V. M., & White, P. A. (2015) · Toxicology and Applied Pharmacology · doi:10.1016/j.taap.2015.11.010 · Cited by 62

Retrotransposition in tumors and brains

Goodier, J. L. (2014) · Mobile DNA · doi:10.1186/1759-8753-5-11 · Cited by 60

A Theory of Ageing

Smith, J. M. (1959) · Nature · doi:10.1038/184956a0 · Cited by 59

The Human Cleavage Stage Embryo Is a Cradle of Chromosomal Rearrangements

Voet, T., Vanneste, E., & Vermeesch, J. R. (2011) · Cytogenetic and Genome Research · doi:10.1159/000324235 · Cited by 54

The rate of human mutation

Kondrashov, A. S. (2012) · Nature · doi:10.1038/488467a · Cited by 52

Microsatellite instability (MSI) increases with age in normal somatic cells

Coolbaugh-Murphy, M. I., Xu, J., Ramagli, L. S., Brown, B. W., & Siciliano, M. J. (2005) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2005.06.005 · Cited by 47

High-throughput sequencing in mutation detection: A new generation of genotoxicity tests?

Maslov, A. Y., Quispe‐Tintaya, W., Gorbacheva, T., White, R. R., & Vijg, J. (2015) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2015.03.014 · Cited by 43

Early references to the mutational origin of cancer

Wunderlich, V. (2006) · International Journal of Epidemiology · doi:10.1093/ije/dyl272 · Cited by 29

Transgenic assays for mutations and cancer: current status and future perspectives

Vijg, J., & STEEG, H. V. (1998) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/s0027-5107(98)00030-x · Cited by 28

Mutagenicity testing with transgenic mice. Part II: Comparison with the mouse spot test.

Wahnschaffe, U., Bitsch, A., Kielhorn, J., & Mangelsdorf, I. (2005) · Journal of Carcinogenesis · doi:10.1186/1477-3163-4-4 · Cited by 22

Protagonistic pleiotropy: Why cancer may be the only pathogenic effect of accumulating nuclear mutations and epimutations in aging

de Grey, A. D. N. J. (2007) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2007.05.005 · Cited by 21

Quantitative detection of low-abundance somatic structural variants in normal cells by high-throughput sequencing

Quispe‐Tintaya, W., Gorbacheva, T., Lee, M., Махортов, С. Д., Popov, V. N., Vijg, J., & Maslov, A. Y. (2016) · Nature Methods · doi:10.1038/nmeth.3893 · Cited by 17

Four-Color FISH for the Detection of Low-Level Aneuploidy in Interphase Cells

Faggioli, F., Vijg, J., & Montagna, C. (2014) · Methods in molecular biology · doi:10.1007/978-1-4939-0329-0_14 · Cited by 17

Mutation as a cause of genetic disease

Evans, H. J. (1988) · Philosophical transactions of the Royal Society of London. Series B, Biological sciences · doi:10.1098/rstb.1988.0054 · Cited by 11

Aneuploidy and Copy Number Variation in Early Human Development

Vanneste, E., der Aa, N. V., Voet, T., & Vermeesch, J. R. (2012) · Seminars in Reproductive Medicine · doi:10.1055/s-0032-1313909 · Cited by 10

Vascular smooth muscle cells in atherosclerosis

Basatemur, G. L., Jørgensen, H. F., Clarke, M. C. H., Bennett, M. R., & Mallat, Z. (2019) · Nature Reviews Cardiology · doi:10.1038/s41569-019-0227-9 · Cited by 1,099

Intratumor Heterogeneity: The Rosetta Stone of Therapy Resistance

Marusyk, A., Janiszewska, M., & Polyak, K. (2020) · Cancer Cell · doi:10.1016/j.ccell.2020.03.007 · Cited by 1,009

The central role of DNA damage in the ageing process

Schumacher, B., Pothof, J., Vijg, J., & Hoeijmakers, J. H. J. (2021) · Nature · doi:10.1038/s41586-021-03307-7 · Cited by 907

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis

Kar, S. P., Quiros, P. M., Gu, M., Jiang, T., Mitchell, J., Langdon, R., Iyer, V., Barcena, C., Vijayabaskar, M. S., Fabre, M. A., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01121-z · Cited by 377

The genetics of human ageing

Melzer, D. R., Pilling, L. C., & Ferrucci, L. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-019-0183-6 · Cited by 387

Age-related somatic mutation burden in human tissues

Ren, P., Dong, X., & Vijg, J. (2022) · Frontiers in Aging · doi:10.3389/fragi.2022.1018119 · Cited by 58

Somatic mutations in aging and disease

Ren, P., Zhang, J., & Vijg, J. (2024) · GeroScience · doi:10.1007/s11357-024-01113-3 · Cited by 30

Pathogenic mechanisms of somatic mutation and genome mosaicism in aging

Vijg, J., & Dong, X. (2020) · Cell · doi:10.1016/j.cell.2020.06.024 · Cited by 240

Somatic mutations, genome mosaicism, cancer and aging

Vijg, J. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2014.04.002 · Cited by 143

The Dynamics of Somatic Mutagenesis During Life in Humans

Manders, F., van Boxtel, R., & Middelkamp, S. (2021) · Frontiers in Aging · doi:10.3389/fragi.2021.802407 · Cited by 48