Whole-genome sequencing across 449 samples spanning 47 ethnolinguistic groups provides insights into genetic diversity in Nigeria

Cell Genom. 2023 Aug 8;3(9):100378. doi: 10.1016/j.xgen.2023.100378. eCollection 2023 Sep 13.

Abstract

African populations have been drastically underrepresented in genomics research, and failure to capture the genetic diversity across the numerous ethnolinguistic groups (ELGs) found on the continent has hindered the equity of precision medicine initiatives globally. Here, we describe the whole-genome sequencing of 449 Nigerian individuals across 47 unique self-reported ELGs. Population structure analysis reveals genetic differentiation among our ELGs, consistent with previous findings. From the 36 million SNPs and insertions or deletions (indels) discovered in our dataset, we provide a high-level catalog of both novel and medically relevant variation present across the ELGs. These results emphasize the value of this resource for genomics research, with added granularity by representing multiple ELGs from Nigeria. Our results also underscore the potential of using these cohorts with larger sample sizes to improve our understanding of human ancestry and health in Africa.

Keywords: Nigeria; genomics; non-communicable diseases; population genetics; precision medicine; whole-genome sequencing.