Evolutionary and biomedical insights from a marmoset diploid genome assembly.

ABSTRACT: The accurate and complete assembly of both haplotype sequences of a diploid organism is essential to understanding the role of variation in genome functions, phenotypes and diseases¹. Here, using a trio-binning approach, we present a high-quality, diploid reference genome, with both haplotypes assembled independently at the chromosome level, for the common marmoset (Callithrix jacchus), an primate model system that is widely used in biomedical research^2,3. The full spectrum of heterozygosity between the two haplotypes involves 1.36% of the genome-much higher than the 0.13% indicated by the standard estimation based on single-nucleotide heterozygosity alone. The de novo mutation rate is 0.43 × 10^-8 per site per generation, and the paternal inherited genome a

SUBMITTER: Yang C 

PROVIDER: S-EPMC8189906 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature