Supplemental data from: Long-term isolation and archaic introgression shape functional genetic variation in Near Oceania
Data files
Mar 31, 2026 version files 145.94 MB
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PIBv1_Table_S11.xlsx
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PIBv1_Table_S12.xlsx
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PIBv1_Table_S13.xlsx
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PIBv1_Table_S15.xlsx
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PIBv1_Table_S16.xlsx
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PIBv1_Table_S17.xlsx
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PIBv1_Table_S18.xlsx
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PIBv1_Table_S19.xlsx
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PIBv1_Table_S2.xlsx
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PIBv1_Table_S21.xlsx
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PIBv1_Table_S22.xlsx
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PIBv1_Table_S23.xlsx
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PIBv1_Table_S8.xlsx
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PIBv1_Table_S9.xlsx
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README.md
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Abstract
Near Oceanic populations harbor remarkable cultural, phenotypic, and genetic diversity, yet are drastically underrepresented in human genomics. We generated 177 high-coverage Near Oceanian whole genomes and analyzed them alongside 1,284 worldwide genomes, revealing major distinctions among and within islands including long-term isolation and strong population bottlenecks. We reconstructed 1.897 Gbp of the archaic genome including 831.9 Mbp of Denisovan sequence, found evidence for introgression from three Denisovan-like groups in Near Oceanians, and adaptive Denisovan introgression at TRPS1, a skeletal development gene also under selection in central African rainforest hunter-gatherers and highland Ecuadorians. We then performed a massively parallel reporter assay and discovered 3,127 high-frequency introgressed expression-modulating variants, finding an enrichment of functional impacts on genes in the IFNγ signalling pathway including JAK1, GBP2, and OAS1.
https://doi.org/10.5061/dryad.2fqz612z6
Supplementary Tables and code for manuscript adr6749 submitted to Science
Description of the data and file structure
Supplementary Tables in Excel format. A list of the files is provided below. Each file includes a Readme sheet describing the content of the tables.
PIBv1_Table_S2.xlsx: Samples and metadata used for the PIBv1 manuscript
PIBv1_Table_S8.xlsx: Archaic deserts in BED-formatted (0-indexed) document based on hg19 coordinates
PIBv1_Table_S9.xlsx: Genes found in archaic deserts identified in this and other studies
PIBv1_Table_S11.xlsx: Neanderthal adaptive introgression candidate windows
PIBv1_Table_S12.xlsx: Denisovan adaptive introgression candidate windows
PIBv1_Table_S13.xlsx: Ambiguous adaptive introgression candidate windows
PIBv1_Table_S15.xlsx: Functional annotation of variants introgressed into Oceanic populations
PIBv1_Table_S16.xlsx: Functionally annotated variants split by consequence
PIBv1_Table_S17.xlsx: ClinVar annotated variants
PIBv1_Table_S18.xlsx: Introgressed variants with GWAS fine-mapping hits from UKBB and BBJ
PIBv1_Table_S19.xlsx: MPRA oligos used
PIBv1_Table_S21.xlsx: MPRA experimental results and functional annotations for pilot dataset of 22,313 hfaSNVs
PIBv1_Table_S22.xlsx: emVars with gene-enhancer links
PIBv1_Table_S23.xlsx: Enrichr results for functionally annotated hfaSNVs
Code has been deposited as PIBv1_manuscript-1.0.0.zip file and is also available from Zenodo at https://zenodo.org/records/18895142/
Large input files for the code are also available on Zenodo at https://zenodo.org/records/18895142/
