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

Area of Science:

• Genomics
• Population Genetics
• Bioinformatics

Background:

• The current human reference genome (GRCh38) lacks diversity, primarily representing European ancestry.
• This underrepresentation hinders research into diseases affecting underrepresented global populations, particularly in Africa.
• Existing efforts to diversify reference genomes face accessibility and representation challenges.

Purpose of the Study:

• To highlight the necessity of population-specific reference genomes, especially for African populations.
• To introduce the Senegalese Genome project (SEN-GENOME) as a model for community-driven, decentralized genomic research.
• To emphasize the importance of local data governance and capacity building in genomic initiatives.

Main Methods:

• Community-driven recruitment and ethical practices for sequencing diverse ethnolinguistic groups in Senegal.
• Sequencing of 1,000 genomes from 31 ethnolinguistic groups across Senegal's 14 administrative regions.
• Integration of local genomic data with broader African pan-genome projects.

Main Results:

• Identification of substantial genetic variation absent in the GRCh38 human reference genome.
• Establishment of a framework for local genomic research tailored to regional needs.
• Demonstration of successful community-driven, decentralized genomic data generation.

Conclusions:

• Local initiatives like SEN-GENOME are vital for bridging genomic disparities and achieving equitable research.
• Community-driven approaches foster local capacity and data ownership in genomics.
• Collaborative efforts toward a comprehensive human pan-genome are essential for advancing genomic medicine and global health.