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bioRxiv · 10.1101/2022.08.08.503226

The first gapless, reference-quality, fully annotated genome from a Southern Han Chinese individual

Chao, K.-H.·Zimin, A. V.·Pertea, M.·Salzberg, S. L.
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Abstract

We used long-read DNA sequencing to assemble the genome of a Southern Han Chinese male. We organized the sequence into chromosomes and filled in gaps using the recently completed CHM13 genome as a guide, yielding a gap-free genome, Han1, containing 3,099,707,698 bases. Using the CHM13 annotation as a reference, we mapped all genes onto the Han1 genome and identified additional gene copies, generating a total of 60,708 genes, of which 20,003 are protein coding. A comprehensive comparison between the genes revealed that 235 protein-coding genes were substantially different between the individuals, with frameshifts or truncations affecting the protein-coding sequence. Most of these were heterozygous variants in which one gene copy was unaffected. This represents the first gene-level comparison between two finished, annotated individual human genomes.

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Chao, K.-H., Zimin, A. V., Pertea, M., Salzberg, S. L.. 2022-08-11. The first gapless, reference-quality, fully annotated genome from a Southern Han Chinese individual. https://doi.org/10.1101/2022.08.08.503226

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