A next-generation human genome sequence

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 · see citing works

The sequence of the human genome

Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909 · see citing works

The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature · doi:10.1038/s41586-020-2308-7 · Cited by 9,434 · see citing works

Finishing the euchromatic sequence of the human genome

International Human Genome Sequencing Consortium (2004) · Nature · doi:10.1038/nature03001 · Cited by 4,971 · see citing works

The complete sequence of a human genome

Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., Vollger, M. R., Altemose, N., Uralsky, L., Gershman, A., et al. (2022) · Science · doi:10.1126/science.abj6987 · Cited by 3,136 · see citing works

Expanded encyclopaedias of DNA elements in the human and mouse genomes

The ENCODE Project Consortium, Abascal, F., Acosta, R., Addleman, N. J., Adrian, J., Afzal, V., Ai, R., Aken, B., Akiyama, J. A., Jammal, O. A., et al. (2020) · Nature · doi:10.1038/s41586-020-2493-4 · Cited by 2,378 · see citing works

Complete genomic and epigenetic maps of human centromeres

Altemose, N., Logsdon, G. A., Bzikadze, A. V., Sidhwani, P., Langley, S. A., Caldas, G. V., Hoyt, S. J., Uralsky, L., Ryabov, F. D., Shew, C. J., et al. (2022) · Science · doi:10.1126/science.abl4178 · Cited by 618 · see citing works

Modernizing Reference Genome Assemblies

Church, D., Schneider, V. A., Graves, T., Auger, K., Cunningham, F., Bouk, N., Chen, H.-C., Agarwala, R., McLaren, W., Ritchie, G., et al. (2011) · PLoS Biology · doi:10.1371/journal.pbio.1001091 · Cited by 563 · see citing works

Segmental duplications and their variation in a complete human genome

Vollger, M. R., Guitart, X., Dishuck, P. C., Mercuri, L., Harvey, W. T., Gershman, A., Diekhans, M., Sulovari, A., Munson, K. M., Lewis, A. P., et al. (2022) · Science · doi:10.1126/science.abj6965 · Cited by 350 · see citing works

Human Whole-Genome Shotgun Sequencing

Weber, J. L., & Myers, E. W. (1997) · Genome Research · doi:10.1101/gr.7.5.401 · Cited by 311 · see citing works

Shotgun sequence assembly and recent segmental duplications within the human genome

She, X., Jiang, Z., Clark, R. A., Liu, G., Cheng, Z., Tüzün, E., Church, D. M., Sutton, G., Halpern, A. L., & Eichler, E. E. (2004) · Nature · doi:10.1038/nature03062 · Cited by 256 · see citing works

Against a Whole-Genome ShotgunPreprint

Green, P. (1997) · Genome Research · doi:10.1101/gr.7.5.410 · Cited by 157 · see citing works

The Need for a Human Pangenome Reference Sequence

Miga, K. H., & Wang, T. (2021) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-120120-081921 · Cited by 120 · see citing works

A Time to Sequence

Olson, M. V. (1995) · Science · doi:10.1126/science.270.5235.394 · Cited by 100 · see citing works

A refined analysis of Neanderthal-introgressed sequences in modern humans with a complete reference genome

Liang, S.-A., Ren, T., Zhang, J., He, J., Wang, X., Jiang, X., He, Y., McCoy, R. C., Fu, Q., Akey, J. M., et al. (2025) · Genome Biology · doi:10.1186/s13059-025-03502-z · Cited by 8 · see citing works

Genomic relationships of N-genome Triticum species

Yen, Y., & KIMBER, G. (1992) · Genome · doi:10.1139/g92-147 · Cited by 17 · see citing works

Identification of signals required for the insertion of heterologous genome segments into the reovirus genome.

Roner, M. R., Lin, P. N., Nepluev, I. V., et al. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.26.12362 · Cited by 21 · see citing works

Estimating the size of the bacterial pan-genome

Lapierre, P., & Gogarten, J. P. (2009) · Trends in Genetics · doi:10.1016/j.tig.2008.12.004 · Cited by 354 · see citing works

Differentiation and inter-genomic relationships among C, E and D genomes in the Oryzaofficinalis complex (Poaceae) as revealed by multicolor genomic in situ hybridization

Li, C., Zhang, D.-M., Ge, S., Lu, B., & De‐Yuan, H. (2001) · Theoretical and Applied Genetics · doi:10.1007/s001220100562 · Cited by 39 · see citing works

Sequencing of Chloroplast Genome in Sesame

Li, C., Zhang, H., Ju, M., et al. (2021) · Compendium of plant genomes · doi:10.1007/978-3-319-98098-0_11 · Cited by 1 · see citing works