CITATION : Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., ... & Phillippy, A. M. (2022). The complete sequence of a human genome. Science, 376(6588), 44-53.
GRCh39 (indefinitely postponed)
GRCh39 : The GRC remains committed to its mission to improve the human reference genome assembly, correcting errors and adding sequence to ensure it provides the best representation of the human genome to meet basic and clinical research needs. We will continue to make these updates publicly available at regular intervals in the form of patch releases, but have decided to indefinitely postpone our next coordinate-changing update (GRCh39) while we evaluate new models and sequence content from ongoing efforts to better represent the genetic diversity of the human pangenome, including those of the Telemore-to-Telomere Consortium and the Human Pangenome Reference Consortium.
CITATION: Liao, W. W., Asri, M., Ebler, J., Doerr, D., Haukness, M., Hickey, G., ... & Human Pangenome Reference Consortium. (2022). A draft human pangenome reference. bioRxiv.
CITATION:Byrska-Bishop, M., Evani, U. S., Zhao, X., Basile, A. O., Abel, H. J., Regier, A. A., ... & Zody, M. C. (2022). High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios. Cell, 185(18), 3426-3440.