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Copy number variation in human genomes from three major ethno-linguistic groups in Africa.

Oscar A NyangiriHarry NoyesJulius MulindwaHamidou IlboudoJustin Windingoudi KaboreBernardin AhoutyMathurin KoffiOlivier Fataki AsinaDieudonne MumbaElvis OfonGustave SimoMagambo Phillip KimudaJohn EnyaruVincent Pius AlibuKelita KamotoJohn ChisiMartin SimuunzaMamadou CamaraIssa SidibeAnnette MacLeodBruno BuchetonNeil HallChristiane Hertz-FowlerEnock Matovunull null
Published in: BMC genomics (2020)
Novel CNVRs in the current study increase representation of African diversity in the database of genomic variants. Over-representation of CNVRs in SNP signatures of selection and an excess of SNPs that both tag CNVs and are subject to selection show that CNVs may be the actual targets of selection at some loci. However, unlike SNPs, CNVs alone do not resolve African ethno-linguistic groups. Tag haplotypes for CNVs identified may be useful in predicting African CNVs in future studies where only SNP data is available.
Keyphrases
  • genome wide
  • copy number
  • mitochondrial dna
  • dna methylation
  • endothelial cells
  • gene expression
  • electronic health record
  • big data
  • induced pluripotent stem cells
  • deep learning