Human genome: filling the gaps

Gershman, A., Sauria, M.E.G., Guitart, X., Vollger, M.R., Hook, P.W., Hoyt, S.J., Jain, M., Shumate, A., Razaghi, R., Koren, S., Altemose, N., Caldas, G.V., Logsdon, G.A., Rhie, A., Eichler, E.E., Schatz, M,C., O’Neill,R.J., Phillippy, A.M., Miga, K.M., Timp, W. (2022). Epigenetic patterns in a complete human genome. Science, 376(6588), 1-11. https://doi.org/10.1126/science.eabj5089

International Human Genome Sequencing Consortium. (2001). Initial sequencing and analysis of the human genome. Nature, 409, 860-921. https://doi.org/10.1038/35057062

Miga, K.H., Eang, T. (2021). The need for a human pangenome reference sequence. Annual Review of Genomics and Human Genetics. 22, 81-102. https://doi.org/10.1146/annurevgenom-120120-081921

Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A.V., Mikheenko, A., Vollger, M.R., Altemose, N., Uralsky, L., Gershman, A., Aganezov, S., Hoyt, S.J., Diekhans, M., Logsdon, G.A., Alonge, M., Antonarakis, S.E., Borchers, M., Bouffard, G.G., Brooks, S.Y., Caldas, G.V., Chen, N-C., … Phillippy, A.M. (2022). The complete sequence of a human genome. Science, 376(6588), 44-53. https://doi.org/10.1126/science.abj6987

Schneider, V.A., Graves-Lindsay, T., Howe, K., Bouk, N., Chen, H-C., Kitts, P.A., Murphy, T.D., Pruitt, K.D., Thibaud-Nissen, F., Albracht, D., Fulton, R.S., Kremitzki, M., Magrini, V., Markovic, C., McGrath, S., Steinberg, KM., Auger K., Chow, W., Collins, J., Harden, G., …Church, D.M. (2017). Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Research, 27, 849-864. https://genome.cshlp.org/content/27/5/84

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., Gocayne, J.D., Amanatides, P., Ballew, R.M., Huson, D.H., Wortman, J.R., Zhang, Q., Kodira, C.D., Zheng, X.H., Chen, L., Skupski, M., ...Zhu, X. (2001). The sequence of a human genome. Science, 291(5507), 1304-1351. https://www.science.org/doi/10.1126/science.1058040