Chasing perfection: validation and polishing strategies for telomere-to-telomere genome assemblies.

ABSTRACT: Advances in long-read sequencing technologies and genome assembly methods have enabled the recent completion of the first telomere-to-telomere human genome assembly, which resolves complex segmental duplications and large tandem repeats, including centromeric satellite arrays in a complete hydatidiform mole (CHM13). Although derived from highly accurate sequences, evaluation revealed evidence of small errors and structural misassemblies in the initial draft assembly. To correct these errors, we designed a new repeat-aware polishing strategy that made accurate assembly corrections in large repeats without overcorrection, ultimately fixing 51% of the existing errors and improving the assembly quality value from 70.2 to 73.9 measured from PacBio high-fidelity and Illumina k-mers. By comparing

SUBMITTER: Mc Cartney AM 

PROVIDER: S-EPMC9812399 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature