ArticleGenome biology2021
Characterization of structural variation in Tibetans reveals new evidence of high-altitude adaptation and introgression.
Article in Genome biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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47 citing papers in PubMed.
- Structural variants are enriched in deleterious visible phenotypes inGenome research · 2026Article
- Variations in Pulse-Oxygen Saturation and Physical Development within the First 2 Hours after Birth Among Healthy Term Neonates Different Altitudes.Physiological research · 2026Article
- Transcriptomic landscape of human circular RNAs: unveiling molecular mechanisms in high-altitude adaptation.Frontiers in genetics · 2026Article
- Exploring the genetic footprints of high altitude adapted humans and livestock.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- Short tandem repeats in populations of the Qinghai-Tibet Plateau and adjacent regions provide insights into high-altitude adaptation.Science advances · 2025Article
- Structural Variations Associated with Adaptation and Coat Color in Qinghai-Tibetan Plateau Cattle.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- cuteFC: regenotyping structural variants through an accurate and efficient force-calling method.Genome biology · 2025Article
- Chromosome-level genome of Neodon fuscus sheds light on the evolution and plateau adaptation of N. fuscus and Neodon.BMC genomics · 2025Article
- Origins, Dispersal, and Impact: Bidirectional Introgression Between Chinese and European Pig Populations.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Population genomics advances in frontier ethnic minorities in China.Science China. Life sciences · 2025Review
- A highland-adaptation variant near MCUR1 reduces its transcription and attenuates erythrogenesis in Tibetans.Cell genomics · 2025Article
- SVLearn: a dual-reference machine learning approach enables accurate cross-species genotyping of structural variants.Nature communications · 2025Article
- Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility.Nature communications · 2025Article
- The Great Genotyper: a graph-based method for population genotyping of small and structural variants.GigaScience · 2025Article
- Advances in Whole Genome Sequencing: Methods, Tools, and Applications in Population Genomics.International journal of molecular sciences · 2025Review
- Long-read sequencing reveals novel structural variation markers for key agronomic and quality traits of food-grade soybean.Frontiers in plant science · 2025Article
- Genome-wide characterization of structure variations in the Xiang pig for genetic resistance to African swine fever.Virulence · 2024Article
- Detection of structural variants linked to mutton flavor and odor in two closely related black goat breeds.BMC genomics · 2024Article
- Introgression drives adaptation to the plateau environment in a subterranean rodent.BMC biology · 2024Article
- Endogenous retroviruses mediate transcriptional rewiring in response to oncogenic signaling in colorectal cancer.Science advances · 2024Article
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7 authors.
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Abstract
backgroundStructural variation (SV) acts as an essential mutational force shaping the evolution and function of the human genome. However, few studies have examined the role of SVs in high-altitude adaptation and little is known of adaptive introgressed SVs in Tibetans so far.
resultsHere, we generate a comprehensive catalog of SVs in a Chinese Tibetan (n = 15) and Han (n = 10) population using nanopore sequencing technology. Among a total of 38,216 unique SVs in the catalog, 27% are sequence-resolved for the first time. We systematically assess the distribution of these SVs across repeat sequences and functional genomic regions. Through genotyping in additional 276 genomes, we identify 69 Tibetan-Han stratified SVs and 80 candidate adaptive genes. We also discover a few adaptive introgressed SV candidates and provide evidence for a deletion of 335 base pairs at 1p36.32.
conclusionsOverall, our results highlight the important role of SVs in the evolutionary processes of Tibetans' adaptation to the Qinghai-Tibet Plateau and provide a valuable resource for future high-altitude adaptation studies.
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