Article

Evolutionary instability drives structural diversity and disease susceptibility at the 16p12.2 locus

2026-03-05

Abstract excerpt

Extensive duplication in the African great ape lineage has led to substantial instability of chromosome 16p. We examined the sequence structure and evolutionary history of the 16p12.2 locus in 570 diverse human haplotypes and seven non-human primates. Human haplotypes vary greatly in size and exhibit ancestry-biased structure. We identify 5-14 clusters of distinct architecture at three segmental duplication (SD) b...

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Literature Corpus work: 759cb4ce-e6e2-5c86-8261-a22116485b38
DOI: 10.64898/2026.03.04.709583

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