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Extensive Variation in Chromatin States Across Humans
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DNA Differences: The extent to which genetic variation affects an individual's phenotype has been difficult to predict because the majority of variation lies outside the coding regions of genes. Now, three studies examine the extent to which genetic variation affects the chromatin of individuals with diverse ancestry and genetic variation (see the Perspective by Furey and Sethupathy ). Kasowski et al. (p. 750 , published online 17 October) examined how genetic variation affects differences in chromatin states and their correlation to histone modifications, as well as more general DNA binding factors. Kilpinen et al. (p. 744 , published online 17 October) document how genetic variation is linked to allelic specificity in transcription factor binding, histone modifications, and transcription. McVicker et al. (p. 747 , published online 17 October) identified how quantitative trait loci affect histone modifications in Yoruban individuals and established which specific transcription factors affect such modifications.
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“Furthermore, the locations and sequence content of enhancers provide insights into how non-coding genetic variation may affect gene expression and cellular phenotypes (32, 36–38).”
From An environment-dependent transcriptional network specifies human microglia identity (2017) · cites this paper as [36]
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Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
Model-based Analysis of ChIP-Seq (MACS)
Zhang, Y., Liu, T., Meyer, C. A., Eeckhoute, J., Johnson, D. S., Bernstein, B. E., Nusbaum, C., Myers, R. M., Brown, M., Li, W., et al. (2008) · Genome Biology · doi:10.1186/gb-2008-9-9-r137 · Cited by 18,386
An integrated encyclopedia of DNA elements in the human genome
The ENCODE Project Consortium (2012) · Nature · doi:10.1038/nature11247 · Cited by 18,072
Self-citationDifferential expression analysis for sequence count data
Anders, S., & Huber, W. (2010) · Genome Biology · doi:10.1186/gb-2010-11-10-r106 · Cited by 15,581
Fast and accurate long-read alignment with Burrows-Wheeler transform.
Li, H., & Durbin, R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btp698 · Cited by 12,063
TopHat: discovering splice junctions with RNA-Seq
Trapnell, C., Pachter, L. S., & Salzberg, S. L. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp120 · Cited by 11,682
Mathematical model for studying genetic variation in terms of restriction endonucleases.
Nei, M., & Li, W. (1979) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.76.10.5269 · Cited by 10,501
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711
Flagged first, then by citations
1 of the 42 references couldn’t be matched to a known paper.
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Function and information content of DNA methylation
Schübeler, D. (2015) · Nature · doi:10.1038/nature14192 · Cited by 2,060
Chromatin architecture reorganization during stem cell differentiation
Dixon, J. R., Jung, I., Selvaraj, S., Shen, Y., Antosiewicz-Bourget, J. E., Lee, A. Y., Ye, Z., Kim, A., Rajagopal, N., Xie, W., et al. (2015) · Nature · doi:10.1038/nature14222 · Cited by 1,646
An environment-dependent transcriptional network specifies human microglia identity
Gosselin, D., Skola, D., Coufal, N. G., Holtman, I. R., Schlachetzki, J. C. M., Sajti, E., Jaeger, B. N., O’Connor, C., Fitzpatrick, C., Pasillas, M. P., et al. (2017) · Science · doi:10.1126/science.aal3222 · Cited by 1,220
Methods of integrating data to uncover genotype-phenotype interactions
Ritchie, M. D., Holzinger, E. R., Li, R., Pendergrass, S. A., & Kim, D. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3868 · Cited by 1,085
The role of regulatory variation in complex traits and disease
Albert, F. W., & Kruglyak, L. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3891 · Cited by 1,047
The selection and function of cell type-specific enhancers
Heinz, S., Romanoski, C. E., Benner, C., & Glass, C. K. (2015) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3949 · Cited by 1,010
Comprehensive functional genomic resource and integrative model for the human brain
Wang, D., Liu, S., Warrell, J., Won, H., Shi, X., Navarro, F. C. P., Clarke, D., Gu, M., Emani, P., Yang, Y. T., et al. (2018) · Science · doi:10.1126/science.aat8464 · Cited by 965
Chromatin-state discovery and genome annotation with ChromHMM
Ernst, J., & Kellis, M. (2017) · Nature Protocols · doi:10.1038/nprot.2017.124 · Cited by 905
Self-citationSystems genetics approaches to understand complex traits
Civelek, M., & Lusis, A. J. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3575 · Cited by 621
Evolutionarily Conserved Principles Predict 3D Chromatin Organization
Rowley, M. J., Nichols, M. H., Lyu, X., Ando‐Kuri, M., Rivera, S., Hermetz, K. E., Wang, P., Ruan, Y., & Corces, V. G. (2017) · Molecular Cell · doi:10.1016/j.molcel.2017.07.022 · Cited by 560
Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression
Soldner, F., Stelzer, Y., Shivalila, C., Abraham, B. J., Latourelle, J. C., Barrasa, M. I., Goldmann, J. E., Myers, R. H., Young, R. A., & Jaenisch, R. (2016) · Nature · doi:10.1038/nature17939 · Cited by 507
Gusev, A., Mancuso, N., Won, H., Kousi, M., Finucane, H. K., Reshef, Y., Song, L., Safi, A., Schizophrenia Working Group of the Psychiatric Genomics Consortium, McCarroll, S., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0092-1 · Cited by 491
Tewhey, R., Kotliar, D., Park, D. S., Liu, B., Winnicki, S., Reilly, S. K., Andersen, K. G., Mikkelsen, T. S., Lander, E. S., Schaffner, S. F., et al. (2016) · Cell · doi:10.1016/j.cell.2016.04.027 · Cited by 480
The IBD interactome: an integrated view of aetiology, pathogenesis and therapy
de Souza, H. S. P., Fiocchi, C., & Iliopoulos, D. (2017) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/nrgastro.2017.110 · Cited by 447
Iwafuchi-Doi, M., Donahue, G., Kakumanu, A., Watts, J. A., Mahony, S., Pugh, B. F., Lee, D., Kaestner, K. H., & Zaret, K. S. (2016) · Molecular Cell · doi:10.1016/j.molcel.2016.03.001 · Cited by 390
The Genetics of Transcription Factor DNA Binding Variation
Deplancke, B., Alpern, D., & Gardeux, V. (2016) · Cell · doi:10.1016/j.cell.2016.07.012 · Cited by 390
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Ernst, J., & Kellis, M. (2015) · Nature Biotechnology · doi:10.1038/nbt.3157 · Cited by 357
Self-citationTeh, A. L., Pan, H., Chen, L., Ong, M.-L., Dogra, S., Wong, J., MacIsaac, J. L., Mah, S. M., McEwen, L. M., Saw, S.-M., et al. (2014) · Genome Research · doi:10.1101/gr.171439.113 · Cited by 352
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Grubert, F., Zaugg, J. B., Kasowski, M., Ursu, O., Spacek, D. V., Martin, A. R., Greenside, P., Srivas, R., Phanstiel, D. H., Pekowska, A., et al. (2015) · Cell · doi:10.1016/j.cell.2015.07.048 · Cited by 319
Self-citationOakes, C. C., Seifert, M., Assenov, Y., Gu, L., Przekopowitz, M., Ruppert, A. S., Wang, Q., Imbusch, C. D., Serva, A., Koser, S. D., et al. (2016) · Nature Genetics · doi:10.1038/ng.3488 · Cited by 309
Landscape of stimulation-responsive chromatin across diverse human immune cells
Calderon, D., Nguyen, M. L. T., Mezger, A., Kathiria, A. S., Müller, F., Nguyen, V. Q., Lescano, N., Wu, B., Trombetta, J. J., Ribado, J. V., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0505-9 · Cited by 269
Banovich, N. E., Lan, X., McVicker, G., van de Geijn, B., Degner, J. F., Blischak, J., Roux, J., Pritchard, J. K., & Gilad, Y. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004663 · Cited by 292
Rasmussen, K. D., Jia, G., Johansen, J. V., Pedersen, M. T., Rapin, N., Bagger, F. O., Porse, B. T., Bernard, O. A., Christensen, J., & Helin, K. (2015) · Genes & Development · doi:10.1101/gad.260174.115 · Cited by 270
Fine-mapping cellular QTLs with RASQUAL and ATAC-seq
Kumasaka, N., Knights, A. J., & Gaffney, D. J. (2015) · Nature Genetics · doi:10.1038/ng.3467 · Cited by 244
Xavier, M. J., Roman, S. D., Aitken, R. J., & Nixon, B. (2019) · Human Reproduction Update · doi:10.1093/humupd/dmz017 · Cited by 272
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Delaneau, O., Zazhytska, M., Borel, C., Giannuzzi, G., Rey, G., Howald, C., Kumar, S., Ongen, H., Popadin, K. Y., Marbach, D., et al. (2019) · Science · doi:10.1126/science.aat8266 · Cited by 212
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Bell, C. G., Gao, F., Yuan, W., Roos, L., Acton, R., Xia, Y., Bell, J. T., Ward, K. J., Mangino, M., Hysi, P. G., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-01586-1 · Cited by 157
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Qu, K., Zaba, L. C., Giresi, P. G., Li, R., Longmire, M. R., Kim, Y. H., Greenleaf, W. J., & Chang, H. Y. (2015) · Cell Systems · doi:10.1016/j.cels.2015.06.003 · Cited by 149
Teif, V. B., Beshnova, D. A., Vainshtein, Y., Marth, C., Mallm, J., Höfer, T., & Rippe, K. (2014) · Genome Research · doi:10.1101/gr.164418.113 · Cited by 154
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Skinner, M. K., Guerrero‐Bosagna, C., & Haque, M. M. (2015) · Epigenetics · doi:10.1080/15592294.2015.1062207 · Cited by 136
Lee, S., Lee, S., Ouellette, S., Park, W., Lee, E. A., & Park, P. J. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx193 · Cited by 133
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Resource, T. M. T. H. E., Busche, S., Shao, X., Caron, M., Kwan, T., Allum, F., Cheung, W., Ge, B., Westfall, S., Simon, M.-M., et al. (2015) · Genome biology · doi:10.1186/s13059-015-0856-1 · Cited by 95
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Reyes‐Palomares, A., Gu, M., Grubert, F., Berest, I., Sa, S., Kasowski, M. M., Arnold, C., Mao, S., Srivas, R., Miao, S., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-15463-x · Cited by 81
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Zhou, X., Cain, C. E., Myrthil, M., Lewellen, N., Michelini, K., Davenport, E., Stephens, M., Pritchard, J. K., & Gilad, Y. (2014) · Genome biology · doi:10.1186/s13059-014-0547-3 · Cited by 76
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Yardımcı, G. G., Frank, C. L., Crawford, G. E., & Ohler, U. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku810 · Cited by 61
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Sepers, B., van den Heuvel, K., Lindner, M., Viitaniemi, H. M., Husby, A., & van Oers, K. (2019) · Journal für Ornithologie · doi:10.1007/s10336-019-01684-5 · Cited by 61
Lei, J., Levin, S. A., & Nie, Q. H. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1324267111 · Cited by 61
Corradin, O., Cohen, A. J., Luppino, J. M., Bayles, I., Schumacher, F. R., & Scacheri, P. C. (2016) · Nature Genetics · doi:10.1038/ng.3674 · Cited by 63
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Rintisch, C., Heinig, M., Bauerfeind, A., Schäfer, S., Mieth, C., Patone, G., Hummel, O., Chen, W., Cook, S. A., Cuppen, E. P. J. G., et al. (2014) · Genome Research · doi:10.1101/gr.169029.113 · Cited by 59
Yi, G., Wierenga, A. T. J., Petraglia, F., Narang, P., Janssen‐Megens, E. M., Mandoli, A., Merkel, A., Berentsen, K., Kim, B., Matarese, F., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2018.12.098 · Cited by 57
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Çalışkan, M., Manduchi, E., Rao, H. S., Segert, J. A., Beltrame, M. H., Trizzino, M., Park, Y., Baker, S. W., Chesi, A., Johnson, M. E., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.05.010 · Cited by 57
Huang, W.-C., Ferris, E., Cheng, T., Hörndli, C. S., Gleason, K., Tamminga, C. A., Wagner, J. D., Boucher, K. M., Christian, J. L., & Gregg, C. J. (2017) · Neuron · doi:10.1016/j.neuron.2017.01.033 · Cited by 59
Li, K., Zhang, Y., Liu, X., Liu, Y., Gu, Z., Cao, H., Dickerson, K. E., Chen, M., Chen, W., Shao, Z., et al. (2020) · Cancer Discovery · doi:10.1158/2159-8290.cd-19-1128 · Cited by 61
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Koh, P. W., Pierson, E., & Kundaje, A. B. (2017) · Bioinformatics · doi:10.1093/bioinformatics/btx243 · Cited by 62
Self-citationZhang, X., Zhang, Y., Zhu, X., Purmann, C., Haney, M. S., Ward, T., Khechaduri, A., Yao, J., Weissman, S. M., & Urban, A. E. (2018) · Nature Communications · doi:10.1038/s41467-018-07766-x · Cited by 57
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Buschdorf, J. P., & Meaney, M. J. (2015) · Comprehensive physiology · doi:10.1002/cphy.c140027 · Cited by 64
Wedd, L., Kucharski, R., & Maleszka, R. (2015) · Epigenetics · doi:10.1080/15592294.2015.1107695 · Cited by 58
Metadata
- Authors
- Kasowski, M., Kyriazopoulou-Panagiotopoulou, S., Grubert, F., Zaugg, J. B., Kundaje, A., Liu, Y., Boyle, A. P., Zhang, Q. C., Zakharia, F., Spacek, D. V., Li, J., Xie, D., Olarerin-George, A., Steinmetz, L. M., Hogenesch, J. B., Kellis, M., Batzoglou, S., & Snyder, M.
- Affiliations
- Yale University (US)
- Stanford University (US)
- Stanford Medicine (US)
- Broad Institute (US)
- University of Pennsylvania (US)
- Corresponding author
- Kasowski, Maya
- Kyriazopoulou-Panagiotopoulou, Sofia
- Grubert, Fabian
- Zaugg, Judith B.
- Kundaje, Anshul
- Snyder, Michael
- ORCID
- Venue
- Science
- Published
- 2013-11-08
- Volume
- 342
- Issue
- 6159
- Pages
- 750-752
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC4075767
- OpenAlex
- W2023342647
- Cited by
- 339
- References
- 42
- Citations by year
- 2026: 9 · 2025: 10 · 2024: 11 · 2023: 5 · 2022: 19 · 2021: 24 · 2020: 20 · 2019: 34 · 2018: 30 · 2017: 36 · 2016: 31 · 2015: 53 · 2014: 51 · 2013: 6
- FWCI
- 21.04
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion)
- King Abdullah University of Science and Technology Repository (King Abdullah University of Science and Technology) (submittedVersion)
- PMC
- Funders
- Siebel Scholars Foundation
- King Abdullah University of Science and Technology
- Janggen-Pöhn-Stiftung
- National Institutes of Health
- National Heart, Lung, and Blood Institute (U01HL107393)
- National Human Genome Research Institute (K99HG007356, R01HG004037, T32HG000044)
- National Institute of General Medical Sciences (T32-GM07205, T32GM007205)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Keywords
- genetic variation, histone modifications, transcription factor binding, quantitative trait loci, human ancestry, Yoruba, transcriptional regulation
- MeSH terms
- CCCTC-Binding Factor, Cohesins, Binding Sites, Chromatin, Chromosomal Proteins, Non-Histone, Enhancer Elements, Genetic, Gene Expression Regulation, Histones, Humans, Repressor Proteins, Transcription Factors, Genetic Variation, Cell Cycle Proteins, Genetic Predisposition to Disease, Cell Line, Tumor
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