Nature Genetics
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Gejman, R. S., & Izar, B. (2025). Polyguanine microsatellites are robust replication clocks in cancer. Nature Genetics. https://doi.org/10.1038/s41588-025-02098-1
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Gorman, B. R., Voloudakis, G., Igo, R. P., Kinzy, T., Halladay, C. W., Bigdeli, T. B., Zeng, B., Venkatesh, S., Cooke Bailey, J. N., Crawford, D. C., Markianos, K., Dong, F., Schreiner, P. A., Zhang, W., Fritsche, L. G., Igl, W., Cooke Bailey, J. N., … Iyengar, S. K. (2024). Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries. Nature Genetics, 56(12), 2659–2671. https://doi.org/10.1038/s41588-024-01764-0
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Shade, L. M. P., Katsumata, Y., Abner, E. L., ... (2024). GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia. Nature Genetics, 56(12), 2407–2421. https://doi.org/10.1038/s41588-024-01939-9
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García-Marín, L. M., Campos, A. I., Diaz-Torres, S., Rabinowitz, J. A., Ceja, Z., Mitchell, B. L., Grasby, K. L., Thorp, J. G., Agartz, I., Alhusaini, S., Ames, D., Amouyel, P., Andreassen, O. A., Arfanakis, K., Arias-Vasquez, A., Armstrong, N. J., Athanasiu, L., Bastin, M. E., Beiser, A. S., … Rentería, M. E. (2024). Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries. Nature Genetics, 56(11), 2333–2344. https://doi.org/10.1038/s41588-024-01951-z
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Janivara, R., Chen, W. C., Hazra, U., Baichoo, S., Agalliu, I., Kachambwa, P., Simonti, C. N., Brown, L. M., Tambe, S. P., Kim, M. S., Harlemon, M., Jalloh, M., Muzondiwa, D., Naidoo, D., Ajayi, O. O., Snyper, N. Y., Niang, L., Diop, H., Ndoye, M., … Rebbeck, T. R. (2024). Heterogeneous genetic architectures of prostate cancer susceptibility in sub-Saharan Africa. Nature Genetics, 56(10), 2093–2103. https://doi.org/10.1038/s41588-024-01931-3
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Abate-Shen, C. (2024). Context-specific targeting of the androgen receptor in prostate cancer. Nature Genetics, 56(10), 2000–2001. https://doi.org/10.1038/s41588-024-01935-z
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Lincoln, M. R., Connally, N., Axisa, P.-P., Gasperi, C., Mitrovic, M., van Heel, D., Wijmenga, C., Withoff, S., Jonkers, I. H., Padyukov, L., Beecham, A. H., Patsopoulos, N. A., Cotsapas, C., Booth, D., Goris, A., Oturai, A., Saarela, J., Fontaine, B., … Cotsapas, C. (2024). Genetic mapping across autoimmune diseases reveals shared associations and mechanisms. Nature Genetics, 56(5), 838–845. https://doi.org/10.1038/s41588-024-01732-8
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Nievergelt, C. M., Maihofer, A. X., Atkinson, E. G., Chen, C.-Y., Choi, K. W., Coleman, J. R. I., Daskalakis, N. P., Duncan, L. E., Polimanti, R., Aaronson, C., Amstadter, A. B., Andersen, S. B., Andreassen, O. A., Arbisi, P. A., Ashley-Koch, A. E., Austin, S. B., Avdibegoviç, E., Babić, D., Bacanu, S.-A., … Koenen, K. C. (2024). Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder. Nature Genetics, 56(5), 792–808. https://doi.org/10.1038/s41588-024-01707-9
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Madden, E. B., Hindorff, L. A., Bonham, V. L., Akintobi, T. H., Burchard, E. G., Baker, K. E., Begay, R. L., Carpten, J. D., Cox, N. J., Di Francesco, V., Dillard, D. A., Fletcher, F. E., Fullerton, S. M., Garrison, N. A., Hammack-Aviran, C. M., Hiratsuka, V. Y., Hildreth, J. E. K., Horowitz, C. R., Hughes Halbert, C. A., … Green, E. D. (2024). Advancing genomics to improve health equity. Nature Genetics, 56(5), 752–757. https://doi.org/10.1038/s41588-024-01711-z
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Zhao, Y., Chukanova, M., Kentistou, K. A., Fairhurst-Hunter, Z., Siegert, A. M., Jia, R. Y., Dowsett, G. K. C., Gardner, E. J., Lawler, K., Day, F. R., Kaisinger, L. R., Tung, Y.-C. L., Lam, B. Y. H., Chen, H.-J. C., Wang, Q., Berumen-Campos, J., Kuri-Morales, P., Tapia-Conyer, R., Alegre-Diaz, J., … Perry, J. R. B. (2024). Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease. Nature Genetics, 56(4), 579–584. https://doi.org/10.1038/s41588-024-01694-x
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Sakaue, S., Weinand, K., Isaac, S., Dey, K. K., Jagadeesh, K., Kanai, M., Watts, G. F. M., Zhu, Z., Albrecht, J., Anolik, J. H., Apruzzese, W., Banda, N., Barnas, J. L., Bathon, J. M., Ben-Artzi, A., Boyce, B. F., Boyle, D. L., Bridges, S. L., … Bykerk, V. P. (2024). Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles. Nature Genetics, 56(4), 615–626. https://doi.org/10.1038/s41588-024-01682-1
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Fujita, M., Gao, Z., Zeng, L., McCabe, C., White, C. C., Ng, B., Green, G. S., Rozenblatt-Rosen, O., Phillips, D., Amir-Zilberstein, L., Lee, H., Pearse, R. V., Khan, A., Vardarajan, B. N., Kiryluk, K., Ye, C. J., Klein, H.-U., Wang, G., Regev, A., … De Jager, P. L. (2024). Cell subtype-specific effects of genetic variation in the Alzheimer’s disease brain. Nature Genetics, 56(4), 605–614. https://doi.org/10.1038/s41588-024-01685-y
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Xiao, F., Zhang, X., Morton, S. U., Kim, S. W., Fan, Y., Gorham, J. M., Zhang, H., Berkson, P. J., Mazumdar, N., Cao, Y., Chen, J., Hagen, J., Liu, X., Zhou, P., Richter, F., Shen, Y., Ward, T., Gelb, B. D., Seidman, J. G., … Pu, W. T. (2024). Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease. Nature Genetics, 56(3), 420–430. https://doi.org/10.1038/s41588-024-01669-y
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Meng, X., Navoly, G., Giannakopoulou, O., Levey, D. F., Koller, D., Pathak, G. A., Koen, N., Lin, K., Adams, M. J., Rentería, M. E., Feng, Y., Gaziano, J. M., Stein, D. J., Zar, H. J., Campbell, M. L., van Heel, D. A., Trivedi, B., Finer, S., … McQuillin, A. (2024). Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference. Nature Genetics, 56(2), 222–233. https://doi.org/10.1038/s41588-023-01596-4
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Guo, M. H., Francioli, L. C., Stenton, S. L., Goodrich, J. K., Watts, N. A., Singer-Berk, M., Groopman, E., Darnowsky, P. W., Solomonson, M., Baxter, S., Abreu, M., Salinas, C. A. A., Ahmad, T., Albert, C. M., Alföldi, J., Ardissino, D., Armean, I. M., Atzmon, G., … Banks, E. (2023). Inferring compound heterozygosity from large-scale exome sequencing data. Nature Genetics, 56(1), 152–161. https://doi.org/10.1038/s41588-023-01608-3
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Leeman-Neill, R. J., Song, D., Bizarro, J., Wacheul, L., Rothschild, G., Singh, S., Yang, Y., Sarode, A. Y., Gollapalli, K., Wu, L., Zhang, W., Chen, Y., Lauring, M. C., Whisenant, D. E., Bhavsar, S., Lim, J., Swerdlow, S. H., Bhagat, G., Zhao, Q., … Basu, U. (2023). Noncoding mutations cause super-enhancer retargeting resulting in protein synthesis dysregulation during B cell lymphoma progression. Nature Genetics, 55(12), 2160–2174. https://doi.org/10.1038/s41588-023-01561-1
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Kang, J. B., Shen, A. Z., Gurajala, S., Nathan, A., Rumker, L., Aguiar, V. R. C., Valencia, C., Lagattuta, K. A., Zhang, F., Jonsson, A. H., Yazar, S., Alquicira-Hernandez, J., Khalili, H., Ananthakrishnan, A. N., Jagadeesh, K., Dey, K., Albrecht, J., Apruzzese, W., … Banda, N. (2023). Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution. Nature Genetics, 55(12), 2255–2268. https://doi.org/10.1038/s41588-023-01586-6
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Sasse, A., Ng, B., Spiro, A. E., Tasaki, S., Bennett, D. A., Gaiteri, C., De Jager, P. L., Chikina, M., & Mostafavi, S. (2023). Benchmarking of deep neural networks for predicting personal gene expression from DNA sequence highlights shortcomings. Nature Genetics, 55(12), 2060–2064. https://doi.org/10.1038/s41588-023-01524-6
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Chapman, O. S., Luebeck, J., Sridhar, S., Wong, I. T.-L., Dixit, D., Wang, S., Prasad, G., Rajkumar, U., Pagadala, M. S., Larson, J. D., He, B. J., Hung, K. L., Lange, J. T., Dehkordi, S. R., Chandran, S., Adam, M., Morgan, L., Wani, S., Tiwari, A., … Chavez, L. (2023). Circular extrachromosomal DNA promotes tumor heterogeneity in high-risk medulloblastoma. Nature Genetics, 55(12), 2189–2199. https://doi.org/10.1038/s41588-023-01551-3
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Miller, K. E., Rivaldi, A. C., Shinagawa, N., Sran, S., Navarro, J. B., Westfall, J. J., Miller, A. R., Roberts, R. D., Akkari, Y., Supinger, R., Hester, M. E., Marhabaie, M., Gade, M., Lu, J., Rodziyevska, O., Bhattacharjee, M. B., Von Allmen, G. K., Yang, E., Lidov, H. G. W., … Bedrosian, T. A. (2023). Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy. Nature Genetics, 55(11), 1920–1928. https://doi.org/10.1038/s41588-023-01547-z
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Hirakawa, H., Gao, L., Tavakol, D. N., Vunjak-Novakovic, G., & Ding, L. (2023). Cellular plasticity of the bone marrow niche promotes hematopoietic stem cell regeneration. Nature Genetics, 55(11), 1941–1952. https://doi.org/10.1038/s41588-023-01528-2
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Burstein, D., Griffen, T. C., Therrien, K., Bendl, J., Venkatesh, S., Dong, P., Modabbernia, A., Zeng, B., Mathur, D., Hoffman, G., Sysko, R., Hildebrandt, T., Voloudakis, G., & Roussos, P. (2023). Genome-wide analysis of a model-derived binge eating disorder phenotype identifies risk loci and implicates iron metabolism. Nature Genetics, 55(9), 1462–1470. https://doi.org/10.1038/s41588-023-01464-1
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Kiryluk, K., Sanchez-Rodriguez, E., Zhou, X.-J., Zanoni, F., Liu, L., Mladkova, N., Khan, A., Marasa, M., Zhang, J. Y., Balderes, O., Sanna-Cherchi, S., Bomback, A. S., Canetta, P. A., Appel, G. B., Radhakrishnan, J., Trimarchi, H., Sprangers, B., Cattran, D. C., Reich, H., … Gharavi, A. G. (2023). Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. Nature Genetics, 55(7), 1091–1105. https://doi.org/10.1038/s41588-023-01422-x
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Yang, Z., Wang, C., Liu, L., Khan, A., Lee, A., Vardarajan, B., Mayeux, R., Kiryluk, K., & Ionita-Laza, I. (2023). CARMA is a new Bayesian model for fine-mapping in genome-wide association meta-analyses. Nature Genetics, 55(6), 1057–1065. https://doi.org/10.1038/s41588-023-01392-0
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Ravi, A., Hellmann, M. D., Arniella, M. B., Holton, M., Freeman, S. S., Naranbhai, V., Stewart, C., Leshchiner, I., Kim, J., Akiyama, Y., Griffin, A. T., Vokes, N. I., Sakhi, M., Kamesan, V., Rizvi, H., Ricciuti, B., Forde, P. M., Anagnostou, V., Riess, J. W., … Gainor, J. F. (2023). Genomic and transcriptomic analysis of checkpoint blockade response in advanced non-small cell lung cancer. Nature Genetics, 55(5), 807–819. https://doi.org/10.1038/s41588-023-01355-5
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Puram, S. V., Mints, M., Pal, A., Qi, Z., Reeb, A., Gelev, K., Barrett, T. F., Gerndt, S., Liu, P., Parikh, A. S., Ramadan, S., Law, T., Mroz, E. A., Rocco, J. W., Adkins, D., Thorstad, W. L., Gay, H. A., Ding, L., Paniello, R. C., … Tirosh, I. (2023). Cellular states are coupled to genomic and viral heterogeneity in HPV-related oropharyngeal carcinoma. Nature Genetics, 55(4), 640–650. https://doi.org/10.1038/s41588-023-01357-3
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Shrine, N., Izquierdo, A. G., Chen, J., Packer, R., Hall, R. J., Guyatt, A. L., Batini, C., Thompson, R. J., Pavuluri, C., Malik, V., Hobbs, B. D., Moll, M., Kim, W., Tal-Singer, R., Bakke, P., Fawcett, K. A., John, C., Coley, K., Piga, N. N., … Tobin, M. D. (2023). Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk. Nature Genetics, 55(3), 410–422. https://doi.org/10.1038/s41588-023-01314-0
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Chen, F., Wang, X., Jang, S.-K., Quach, B. C., Weissenkampen, J. D., Khunsriraksakul, C., Yang, L., Sauteraud, R., Albert, C. M., Allred, N. D. D., Arnett, D. K., Ashley-Koch, A. E., Barnes, K. C., Barr, R. G., Becker, D. M., Bielak, L. F., Bis, J. C., Blangero, J., Boorgula, M. P., … Liu, D. J. (2023). Multi-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing. Nature Genetics, 55(2), 291–300. https://doi.org/10.1038/s41588-022-01282-x
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Wang, Y., Fan, J. L., Melms, J. C., Amin, A. D., Georgis, Y., Barrera, I., Ho, P., Tagore, S., Abril-Rodríguez, G., He, S., Jin, Y., Biermann, J., Hofree, M., Caprio, L., Berhe, S., Khan, S. A., Henick, B. S., Ribas, A., Macosko, E. Z., … Izar, B. (2023). Multimodal single-cell and whole-genome sequencing of small, frozen clinical specimens. Nature Genetics, 55(1), 19–25. https://doi.org/10.1038/s41588-022-01268-9
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Vagelos College of Physicians and Surgeons; Department of Medicine; Division of Hematology/Oncology; Department of Surgery; Department of Systems Biology; Center for Translational Immunology; Herbert Irving Comprehensive Cancer Center; Department of Pathology and Cell Biology; Irving Institute for Cancer Dynamics
Liu, H., Li, P., Zhang, S., Xiang, J., Yang, R., Liu, J., Shafiquzzaman, M., Biswas, S., Wei, Z., Zhang, Z., Zhou, X., Yin, F., Xie, Y., Goff, S. P., Chen, L., & Li, B. (2022). Prrx1 marks stem cells for bone, white adipose tissue and dermis in adult mice. Nature Genetics, 54(12), 1946–1958. https://doi.org/10.1038/s41588-022-01227-4
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Holstege, H., Hulsman, M., Charbonnier, C., Grenier-Boley, B., Quenez, O., Grozeva, D., van Rooij, J. G. J., Sims, R., Ahmad, S., Amin, N., Norsworthy, P. J., Dols-Icardo, O., Hummerich, H., Kawalia, A., Amouyel, P., Beecham, G. W., Berr, C., Bis, J. C., Boland, A., … Lambert, J.-C. (2022). Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease. Nature Genetics, 54(12), 1786–1794. https://doi.org/10.1038/s41588-022-01208-7
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Zhou, X., Feliciano, P., Shu, C., Wang, T., Astrovskaya, I., Hall, J. B., Obiajulu, J. U., Wright, J. R., Murali, S. C., Xu, S. X., Brueggeman, L., Thomas, T. R., Marchenko, O., Fleisch, C., Barns, S. D., Snyder, L. G., Han, B., Chang, T. S., Turner, T. N., … Chung, W. K. (2022). Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nature Genetics, 54(9), 1305–1319. https://doi.org/10.1038/s41588-022-01148-2
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Vujkovic, M., Ramdas, S., Lorenz, K. M., Guo, X., Darlay, R., Cordell, H. J., He, J., Gindin, Y., Chung, C., Myers, R. P., Schneider, C. V., Park, J., Lee, K. M., Serper, M., Carr, R. M., Kaplan, D. E., Haas, M. E., MacLean, M. T., Witschey, W. R., … Chang, K.-M. (2022). A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation. Nature Genetics, 54(6), 761–771. https://doi.org/10.1038/s41588-022-01078-z
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Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., Holmans, P. A., Boland, A., Damotte, V., van der Lee, S. J., Costa, M. R., Kuulasmaa, T., Yang, Q., de Rojas, I., Bis, J. C., … Lambert, J.-C. (2022). New insights into the genetic etiology of Alzheimer’s disease and related dementias. Nature Genetics, 54(4), 412–436. https://doi.org/10.1038/s41588-022-01024-z
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Huffman, J. E., Butler-Laporte, G., Khan, A., Pairo-Castineira, E., Drivas, T. G., Peloso, G. M., Nakanishi, T., Ganna, A., Verma, A., Baillie, J. K., Kiryluk, K., Richards, J. B., & Zeberg, H. (2022). Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19. Nature Genetics, 54(2), 125–127. https://doi.org/10.1038/s41588-021-00996-8
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