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  1. ApoE3r may not be particularly rare in individuals of Yoruba ethnicity. Using whole-exome sequencing data from a subset of approximately 48,000 UK Biobank participants, Huang et al. identified this haplotype in ~0.5 percent of individuals of Yoruba descent. With the release of more exome sequencing data (and the impending release of whole-genome sequencing data on almost all of UK Biobank in 2023), further analysis will help confirm the frequency of this haplotype in Yoruba individuals with more precision.


    . PERHAPS: Paired-End short Reads-based HAPlotyping from next-generation Sequencing data. Brief Bioinform. 2021 Jul 20;22(4) PubMed.

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  1. APOE [C130R;R176C] (ApoE3r)