GenomicsCell GenomicsPeer-reviewed
Intraspecific sequence variation and complete genomes refine the identification of rapidly evolved regions in humans
Yanting Luo, Riley J. Mangan, Seth Weaver…·Craig B. Lowe
The paper identifies 1,596 Consensus HAQERs by aligning T2T assemblies, showing they are rapidly evolved regions with mutation signatures, regulatory functions, and disease associations.
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