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African Pan Genome Contigs Expose Biologically Relevant Sequence Still Hidden from Human Reference Frameworks

2025-08-15

Abstract excerpt

Human reference genomes underpin biomedical discovery but remain incomplete and biased toward European populations, constraining interpretation of genetic variation in underrepresented populations. Here we characterize African Pan Genome (APG) contigs totaling 296.5 Mb to define the sequence and functional landscape of genomic regions absent from current references. Most contigs align to the telomere-to-telomere (...

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Literature Corpus work
17eccbf8-bb01-5b2b-b76f-c62823742f9d
DOI
10.1101/2025.08.15.670543
Open publication

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African Pan Genome Contigs Expose Biologically Relevant Sequence Still Hidden from Human Reference FrameworksDOI 10.1101/2025.08.15.670543
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