Semi-automated assembly of high-quality diploid human reference genomes.

ABSTRACT: The current human reference genome, GRCh38, represents over 20 years of effort to generate a high-quality assembly, which has benefitted society^1,2. However, it still has many gaps and errors, and does not represent a biological genome as it is a blend of multiple individuals^3,4. Recently, a high-quality telomere-to-telomere reference, CHM13, was generated with the latest long-read technologies, but it was derived from a hydatidiform mole cell line with a nearly homozygous genome⁵. To address these limitations, the Human Pangenome Reference Consortium formed with the goal of creating high-quality, cost-effective, diploid genome assemblies for a pangenome reference that represents human genetic diversity⁶. Here, in our first scientific report, we

SUBMITTER: Jarvis ED 

PROVIDER: S-EPMC9668749 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature