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Identifying human-specific transcription factor binding site gains and losses that contribute to human-specific phenotypes

Identifying the genetic changes responsible for human-specific traits remains a central challenge in evolutionary genomics. Although thousands of modern human-specific variants have been identified through comparisons with Neanderthal, Denisovan, and great ape genomes, the phenotypic consequences of most of these changes remain unknown, particularly for non-coding variants. Here, we predicted…

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