@article{fdi:010081003,
  title = {{H}igh-depth {A}frican genomes inform human migration and health},
  author = {{C}houdhury, {A}. and {A}ron, {S}. and {B}otigue, {L}. {R}. and {S}engupta, {D}. and {B}otha, {G}. and {B}ensellak, {T}. and {W}ells, {G}. and {K}umuthini, {J}. and {S}hriner, {D}. and {F}akim, {Y}. {J}. and {G}hoorah, {A}. {W}. and {D}areng, {E}. and {O}dia, {T}. and {F}alola, {O}. and {A}debiyi, {E}. and {H}azelhurst, {S}. and {M}azandu, {G}. and {N}yangiri, {O}. {A}. and {M}biyavanga, {M}. and {B}enkahla, {A}. and {K}assim, {S}. {K}. and {M}ulder, {N}. and {A}debamowo, {S}. {N}. and {C}himusa, {E}. {R}. and {M}uzny, {D}. and {M}etcalf, {G}. and {G}ibbs, {R}. {A}. and {R}otimi, {C}. and {R}amsay, {M}. and {A}deyemo, {A}. {A}. and {L}ombard, {Z}. and {H}anchard, {N}. {A}. and {B}ucheton, {B}runo and et al. and {T}rypano{GEN} {R}esearch {G}roup and {H}3{A}frica {C}onsortium},
  editor = {},
  language = {{ENG}},
  abstract = {{T}he {A}frican continent is regarded as the cradle of modern humans and {A}frican genomes contain more genetic variation than those from any other continent, yet only a fraction of the genetic diversity among {A}frican individuals has been surveyed(1). {H}ere we performed whole-genome sequencing analyses of 426 individualscomprising 50 ethnolinguistic groups, including previously unsampled populations-to explore the breadth of genomic diversity across {A}frica. {W}e uncovered more than 3 million previously undescribed variants, most of which were found among individuals from newly sampled ethnolinguistic groups, as well as 62 previously unreported loci that are under strong selection, which were predominantly found in genes that are involved in viral immunity, {DNA} repair and metabolism. {W}e observed complex patterns of ancestral admixture and putative-damaging and novel variation, both within and between populations, alongside evidence that {Z}ambia was a likely intermediate site along the routes of expansion of {B}antu-speaking populations. {P}athogenic variants in genes that are currently characterized as medically relevant were uncommon-but in other genes, variants denoted as `likely pathogenic' in the {C}lin{V}ar database were commonly observed. {C}ollectively, these findings refine our current understanding of continental migration, identify gene flow and the response to human disease as strong drivers of genome-level population variation, and underscore the scientific imperative for a broader characterization of the genomic diversity of {A}frican individuals to understand human ancestry and improve health.},
  keywords = {{AFRIQUE}},
  booktitle = {},
  journal = {{N}ature},
  volume = {586},
  numero = {7831},
  pages = {741--748 + 15 p.},
  ISSN = {0028-0836},
  year = {2020},
  DOI = {10.1038/s41586-020-2859-7},
  URL = {https://www.documentation.ird.fr/hor/fdi:010081003},
}