Data from: Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal

Adaptive evolution in humans has rarely been characterized for its whole set of components, i.e. selective pressure, adaptive phenotype, beneficial alleles and realized fitness differential. We combined approaches for detecting selective sweeps and polygenic adaptations and for mapping the genetic bases of physiological and fertility phenotypes in approximately 1000 indigenous ethnically Tibetan women from Nepal, adapted to high altitude. We performed genome-wide association analysis and tests for polygenic adaptations which showed evidence of positive selection for alleles associated with more pregnancies and live births and evidence of negative selection for those associated with higher offspring mortality. Lower hemoglobin level did not show clear evidence for polygenic adaptation, despite its strong association with an EPAS1 haplotype carrying selective sweep signals.Tibetan Genotype data (high density)PLINK formatted genotype data files (bed, bim, fam) for 344 unrelated Tibetan individuals genotyped on both the Illumina OmniExpress-24 v1.0 array and the Illumina HumanCore-12 v1.0A array. HumanCore array genotypes were used for markers found on both arrays.Tibetan_batch1.tar.gzTibetan Genotype Data (low density)PLINK formatted genotype data files (bed, bim, fam) for 657 Tibetan individuals genotyped only on the Illumina HumanCore-12 v1.0A array.Tibetan_batch2.tar.gzSherpa Genotype DataPLINK formatted genotype data files (bed, bim, fam) for 103 Sherpa individuals, including genotypes from the Illumina OmniExpress-24 v1.0 array and for two separately genotyped SNPs in the EGLN1 gene.Sherpa_batch2.tar.gzTibetan GWAS Summary Statistics for Physiological TraitsThis file is a tar archive containing 8 files with the GWAS summary statistics generated by the software gemma for the Tibetan physiological traits. The individual gemma files are compressed, tab delimited text files. See the accompanying README for further details.JEONG_TBTN_GWAS_PHYSIOLOGICAL.tarTibetan GWAS Summary Statistics for Fertility Traits 1This file is a tar archive containing 8 files with the GWAS summary statistics generated by the software gemma for the fertility traits npreg, b1age, lastpreg and twins. The individual gemma files are compressed, tab delimited text files. See the accompanying README for further details.JEONG_TBTN_GWAS_npreg_b1age_lastpreg_twins.tarTibetan GWAS Summary Statistics for Fertility Traits 2This file is a tar archive containing 8 files with the GWAS summary statistics generated by the software gemma for the fertility traits miscarriages and stillbirths. The individual gemma files are compressed, tab delimited text files. See the accompanying README for further details.JEONG_TBTN_GWAS_MC_SB.tarTibetan GWAS Summary Statistics for Fertility Traits 3This file is a tar archive containing 4 files with the GWAS summary statistics generated by the software gemma for the fertility trait live births. The individual gemma files are compressed, tab delimited text files. See the accompanying README for further details.JEONG_TBTN_GWAS_LB.tarTibetan GWAS Summary Statistics for Fertility Traits 4This file is a tar archive containing 8 files with the GWAS summary statistics generated by the software gemma for the fertility traits juvenile deaths and juvenile survival. The individual gemma files are compressed, tab delimited text files. See the accompanying README for further details.JEONG_TBTN_GWAS_JD_JS.tarTibetan GWAS Summary Statistics for Fertility Traits 5This file is a tar archive containing 8 files with the GWAS summary statistics generated by the software gemma for the fertility traits infant death and infant survival. The individual gemma files are compressed, tab delimited text files. See the accompanying README for further details.JEONG_TBTN_GWAS_ID_IS.tarTibetan GWAS Summary Statistics for Fertility Traits 6This file is a tar archive containing 8 files with the GWAS summary statistics generated by the software gemma for the fertility traits childhood death and childhood survival. The individual gemma files are compressed, tab delimited text files. See the accompanying README for further details.JEONG_TBTN_GWAS_CD_CS.tarTibetan GWAS Summary Statistics for Fertility Traits 7This file is a tar archive containing 8 files with the GWAS summary statistics generated by the software gemma for the fertility traits infant and childhood death and infant, childhood and juvenile death. The individual gemma files are compressed, tab delimited text files. See the accompanying README for further details.JEONG_TBTN_GWAS_ICD_ICJD.tarFunding provided by: National Science FoundationCrossref Funder Registry ID: http://dx.doi.org/10.13039/100000001Award Number: 115391