ArticleGenome biology2023
Large-scale genome sequencing redefines the genetic footprints of high-altitude adaptation in Tibetans.
Article in Genome biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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46 citing papers in PubMed, 82 citations in OpenAlex.
- Identifying causal genetic variants for high-altitude adaptation through blood eQTL analysis in plateau populations.Communications biology · 2026Article
- Genome-wide variation landscape reveals temperature adaptation in Chinese indigenous cattle.Journal of animal science and biotechnology · 2026Article
- Large-Scale Genomics Reveals Three-Source Ancestry and Layered Adaptation to High Altitude in Tibetan Chickens.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Large-scale mitogenome analysis reveals complex maternal genetic connections between Sino-Tibetan- and Altaic-speaking populations.Human genetics · 2026Article
- ALGI: Sparse Convolutional Denoising Autoencoder Utilizing Local Genomic Information for Genotype Imputation.Animals : an open access journal from MDPI · 2026Article
- Tracing the genetic legacy of Altaic-speaking populations suggested long-distance migration and multi-source admixture shape the genomic diversity of Xibe and Daur.Human genetics · 2026Article
- Collaboration of the symbiotic microbiome and host genome during the high altitude adaptation of chickens.Science China. Life sciences · 2026Article
- Salutogenomics: embracing the full spectrum of human health.Trends in genetics : TIG · 2026Review
- Detection rate and risk factors of colorectal adenoma in high-altitude population: A cross-sectional study.World journal of gastrointestinal oncology · 2026Article
- Longitudinal Genome-Wide Association Study for Female Fertility Traits in German Holstein Cattle.Animal genetics · 2026Article
- Signatures of high-altitude adaptation in Caucasus populations: evidence from the EGLN1-SPRTN locus.Genetica · 2026Article
- Establishing reference intervals for 25 common biochemical analytes in Tibetans living at very high altitude.Open medicine (Warsaw, Poland) · 2026Article
- High-quality Population-specific Haplotype-resolved Reference Panel in the Genomic and Pangenomic Eras.Genomics, proteomics & bioinformatics · 2025Review
- Differentiating the demographic histories and local adaptations of middle-altitude Qiang and Tibetan people.Human genetics · 2025Article
- Differentiating the demographic histories and local adaptations of middle-altitude Qiang and Tibetan people.Human genetics · 2025Article
- Metabolomic and microbiome integration of Han-Tibetan and plain-plateau populations.BMC biology · 2025Article
- Metabolic syndrome-related gene signature for prognosis and immune microenvironment prediction in hepatocellular carcinoma.Scientific reports · 2025Article
- HiLand Resource: A Comprehensive Database of Highland Human Populations.Genomics, proteomics & bioinformatics · 2025Article
- Metabolic alterations in erythrocytes associated with long-term hypoxia at high altitude.BMC genomics · 2025Article
- Short tandem repeats in populations of the Qinghai-Tibet Plateau and adjacent regions provide insights into high-altitude adaptation.Science advances · 2025Article
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Authors and funding
20 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTibetans are genetically adapted to high-altitude environments. Though many studies have been conducted, the genetic basis of the adaptation remains elusive due to the poor reproducibility for detecting selective signatures in the Tibetan genomes.
resultsHere, we present whole-genome sequencing (WGS) data of 1001 indigenous Tibetans, covering the major populated areas of the Qinghai-Tibetan Plateau in China. We identify 35 million variants, and more than one-third of them are novel variants. Utilizing the large-scale WGS data, we construct a comprehensive map of allele frequency and linkage disequilibrium and provide a population-specific genome reference panel, referred to as 1KTGP. Moreover, with the use of a combined approach, we redefine the signatures of Darwinian-positive selection in the Tibetan genomes, and we characterize a high-confidence list of 4320 variants and 192 genes that have undergone selection in Tibetans. In particular, we discover four new genes, TMEM132C, ATP13A3, SANBR, and KHDRBS2, with strong signals of selection, and they may account for the adaptation of cardio-pulmonary functions in Tibetans. Functional annotation and enrichment analysis indicate that the 192 genes with selective signatures are likely involved in multiple organs and physiological systems, suggesting polygenic and pleiotropic effects.
conclusionsOverall, the large-scale Tibetan WGS data and the identified adaptive variants/genes can serve as a valuable resource for future genetic and medical studies of high-altitude populations.
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