GoKawiilStudy catalogues human-specific gene-regulatory changes shaping the skeleton
Researchers compared genomes from over 100 non-human great apes—including bonobos, chimpanzees, gorillas and orangutans—against thousands of human genomes to identify DNA substitutions unique and fixed in humans. They applied strict filtering criteria involving sequencing depth, genotype quality and allelic balance, then cross-checked results against archaic human genomes from Neanderthals and Denisovans, producing a curated set of human-specific variants for further functional testing via a massively parallel reporter assay (MPRA).