Characterization of large-scale genomic differences in the first complete human genome

Characterization of large-scale genomic differences in the first complete human genome

Abstract Background The first telomere-to-telomere (T2T) human genome assembly (T2T-CHM13) release is a milestone in human genomics. The T2T-CHM13 genome assembly extends our understanding of telomeres, centromeres, segmental duplication, and other complex regions. The current human genome reference...

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Bibliographic Details
Main Authors: Xiangyu Yang, Xuankai Wang, Yawen Zou, Shilong Zhang, Manying Xia, Lianting Fu, Mitchell R. Vollger, Nae-Chyun Chen, Dylan J. Taylor, William T. Harvey, Glennis A. Logsdon, Dan Meng, Junfeng Shi, Rajiv C. McCoy, Michael C. Schatz, Weidong Li, Evan E. Eichler, Qing Lu, Yafei Mao
Format: Article
Language:English
Published: BMC 2023-07-01
Series:Genome Biology
Subjects:
Complete human genome (T2T-CHM13)
Human reference genome (GRCh38)
Large-scale structural variation
Neurological disease
Immune disorder
Discrepant region
Online Access:https://doi.org/10.1186/s13059-023-02995-w

Internet

https://doi.org/10.1186/s13059-023-02995-w

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