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. Author manuscript; available in PMC: 2023 Sep 18.
Published in final edited form as: Nat Methods. 2023 Jan;20(1):17–19. doi: 10.1038/s41592-022-01740-8

Fig. 1 ∣. Genomic variants and schematics of their location on the chromosome.

Fig. 1 ∣

Locations on the chromosome include previously inaccessible regions such as telomeres, centromeres and pericentromeres, satellite DNA, and segmental duplications. A complete genome, such as T2T-CHM13, closes gaps in the assembly and corrects misassemblies, including copy number (CN) errors. Diverse samples of the human population are needed to differentiate between common and rare variants, to comprehensively catalog this variation and to find new disease associations.