CHM13
CHM13细胞系（也称为CHM13htert）是一个人类完全性葡萄胎的细胞系[1]，暨精子与一个没有细胞核的卵子受精而产生的父系单倍体细胞[2]，可作为人类基因组的参考标准[3]，用于单条染色体的端粒到端粒（Telomere-to-telomere，T2T）DNA测序[4]。
参考资料 编辑
- ^ Huddleston, J; Chaisson, MJP; Steinberg, KM; Warren, W; Hoekzema, K; Gordon, D; Graves-Lindsay, TA; Munson, KM; Kronenberg, ZN; Vives, L; Peluso, P; Boitano, M; Chin, CS; Korlach, J; Wilson, RK; Eichler, EE. Discovery and genotyping of structural variation from long-read haploid genome sequence data.. Genome research. 2017-05, 27 (5): 677–685. PMID 27895111. doi:10.1101/gr.214007.116.
- ^ Schneider, VA; Graves-Lindsay, T; Howe, K; Bouk, N; Chen, HC; Kitts, PA; Murphy, TD; Pruitt, KD; Thibaud-Nissen, F; Albracht, D; Fulton, RS; Kremitzki, M; Magrini, V; Markovic, C; McGrath, S; Steinberg, KM; Auger, K; Chow, W; Collins, J; Harden, G; Hubbard, T; Pelan, S; Simpson, JT; Threadgold, G; Torrance, J; Wood, JM; Clarke, L; Koren, S; Boitano, M; Peluso, P; Li, H; Chin, CS; Phillippy, AM; Durbin, R; Wilson, RK; Flicek, P; Eichler, EE; Church, DM. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly.. Genome research. 2017-05, 27 (5): 849–864. PMID 28396521. doi:10.1101/gr.213611.116.
- ^ Li, H; Bloom, JM; Farjoun, Y; Fleharty, M; Gauthier, L; Neale, B; MacArthur, D. A synthetic-diploid benchmark for accurate variant-calling evaluation.. Nature methods. 2018-08, 15 (8): 595–597. PMID 30013044. doi:10.1038/s41592-018-0054-7.
- ^ Miga, KH; Koren, S; Rhie, A; Vollger, MR; Gershman, A; Bzikadze, A; Brooks, S; Howe, E; Porubsky, D; Logsdon, GA; Schneider, VA; Potapova, T; Wood, J; Chow, W; Armstrong, J; Fredrickson, J; Pak, E; Tigyi, K; Kremitzki, M; Markovic, C; Maduro, V; Dutra, A; Bouffard, GG; Chang, AM; Hansen, NF; Wilfert, AB; Thibaud-Nissen, F; Schmitt, AD; Belton, JM; Selvaraj, S; Dennis, MY; Soto, DC; Sahasrabudhe, R; Kaya, G; Quick, J; Loman, NJ; Holmes, N; Loose, M; Surti, U; Risques, RA; Graves Lindsay, TA; Fulton, R; Hall, I; Paten, B; Howe, K; Timp, W; Young, A; Mullikin, JC; Pevzner, PA; Gerton, JL; Sullivan, BA; Eichler, EE; Phillippy, AM. Telomere-to-telomere assembly of a complete human X chromosome.. Nature. 2020-09, 585 (7823): 79–84. PMID 32663838. doi:10.1038/s41586-020-2547-7.