Toward building a comprehensive human pan-genome: The SEN-GENOME project.

ABSTRACT: The human reference genome (GRCh38), primarily sourced from individuals of European descent, falls short in capturing the vast genetic diversity across global populations. Efforts to diversify the reference genome face challenges in accessibility and representation, exacerbating the scarcity of African genomic data crucial for studying diseases prevalent in these populations. Sherman et al. proposed constructing reference genomes tailored to distinct human sub-populations. Their African Pan-Genome initiative highlighted substantial genetic variation missing from the GRCh38 human reference genome, emphasizing the necessity for population-specific genomes. In response, local initiatives like the Senegalese Genome project (SEN-GENOME) have emerged to document the genomes of historically overl

SUBMITTER: Gaye A 

PROVIDER: S-EPMC11480787 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature