We construct a near-complete Tibetan pangenome based on 37 trios, uncovering previously missing structural variants and archaic introgressions driving high-altitude adaptation.

We present the SEA3K dataset of 3,023 Southeast Asian genomes, revealing extensive diversity and natural selection signatures for tropical adaptation.

We present the HiLand Resource, a comprehensive open database of highlander phenomic, genomic, and genetic association data across global highlanders.

We demonstrate GCH1 selection in Tibetans reduces its expression, and knockout mice show higher blood NO and oxygen saturation under hypoxia.

We sequence 492 Central Plains Han Chinese genomes, uncovering dietary adaptation signatures in glycolipid metabolism genes from agricultural expansion.

We report male-biased placental transcriptomic divergence in Tibetans, with greater adaptive changes in male-infant placentas improving fetal development at altitude.

We demonstrate higher Tibetan reproductive fitness via polygenic adaptation involving both maternal and fetal genomes, supported by EPAS1 mouse models.

We deeply phenotype 11,880 highlanders, constructing an atlas of Tibetan adaptation and Han acclimatization, and identifying 45 novel high-altitude adaptive traits.

We found acclimatized Han Chinese have higher arterial oxygen saturation than Tibetans at the same altitude with greater chronic mountain sickness.

We review the Primate Genome Project, which unravels primate evolution and refines the prediction of human disease variants by sequencing nearly half of all primates.

We present whole-genome sequencing of 1,001 Tibetans and identify 192 positive selective genes underscoring polygenic high-altitude adaptation.

We identify multiple great-ape-specific structural variants by comprehensive comparative genomic analysis, highlighting their role in shaping great-ape traits.

We find Tibetan birth weight peaks in winter with pronounced male-biased fluctuation, indicating male infants’ greater hypoxia sensitivity.

We sequence a 14,000-year-old Southwest China genome, confirming its modern human identity and deep link to First American ancestry.

We generate hypoxia time-course multiomic data and develop vPECA, identifying causal SNPs and revealing the regulatory basis of Tibetan high-altitude adaptation.

We de novo assemble a Tibetan genome, discovering novel structural variants including an MKL1 deletion associated with lower pulmonary pressure.

We assemble a high-quality Chinese rhesus macaque genome and identify 17,000 ape-specific structural variants linked to key evolutionary innovations.

We use trio sequencing to show CRISPR-Cas9 editing in rhesus monkeys introduces no unexpected off-target or large on-target mutations.

We refine the yak transcriptome across tissues and altitudes, revealing that lung and heart exhibit nonlinear adaptive expression changes under hypoxia.

We refute uniquely elevated NO signaling in Tibetans, showing instead a blunted adaptive regulation compared to Han migrants at high altitude.

We show Tibetan-enriched EPAS1 variants down-regulate its expression, providing a molecular basis for blunted hypoxic responses and polycythemia protection.

We detect positive selection on GCH1 in Tibetans and associate its variants with lower blood NO, oxygen saturation, and hemoglobin levels.

We identify a ~4,500 m turning point where Tibetan hemoglobin and polycythemia prevalence sharply increase, indicating blunted response altitude limits.

We find positive selection on EP300 in Tibetans and associate its variants with decreased blood nitric oxide, suggesting a role in high-altitude adaptation.