Towards complete and error-free genome assemblies of all vertebrate species.

ABSTRACT: High-quality and complete reference genome assemblies are fundamental for the application of genomics to biology, disease, and biodiversity conservation. However, such assemblies are available for only a few non-microbial species^1-4. To address this issue, the international Genome 10K (G10K) consortium^5,6 has worked over a five-year period to evaluate and develop cost-effective methods for assembling highly accurate and nearly complete reference genomes. Here we present lessons learned from generating assemblies for 16 species that represent six major vertebrate lineages. We confirm that long-read sequencing technologies are essential for maximizing genome quality, and that unresolved complex repeats and haplotype heterozygosity are major sources of assembly error whe

SUBMITTER: Rhie A 

PROVIDER: S-EPMC8081667 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature