dc.date.accessioned | 2019-02-22T14:55:29Z | |
dc.date.available | 2019-02-22T14:55:29Z | |
dc.date.created | 2019-02-22T14:55:29Z | |
dc.date.issued | 2015 | |
dc.identifier | https://hdl.handle.net/20.500.12866/5743 | |
dc.identifier | https://doi.org/10.1038/nature15393 | |
dc.description.abstract | The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies. | |
dc.language | eng | |
dc.publisher | Springer Nature | |
dc.relation | Nature | |
dc.relation | 1476-4687 | |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es | |
dc.rights | info:eu-repo/semantics/restrictedAccess | |
dc.subject | Humans | |
dc.subject | Genetic Variation | |
dc.subject | Genetics, Population | |
dc.subject | Genotype | |
dc.subject | public health | |
dc.subject | Genome-Wide Association Study | |
dc.subject | Demography | |
dc.subject | human | |
dc.subject | priority journal | |
dc.subject | genetic variation | |
dc.subject | Quantitative Trait Loci | |
dc.subject | major clinical study | |
dc.subject | genotype | |
dc.subject | ancestry | |
dc.subject | polymorphism | |
dc.subject | human genome | |
dc.subject | population structure | |
dc.subject | genetics | |
dc.subject | quantitative trait locus | |
dc.subject | Internationality | |
dc.subject | Datasets as Topic | |
dc.subject | Sequence Analysis, DNA | |
dc.subject | Reference Standards | |
dc.subject | Polymorphism, Single Nucleotide | |
dc.subject | Genomics | |
dc.subject | Haplotypes | |
dc.subject | High-Throughput Nucleotide Sequencing | |
dc.subject | Rare Diseases | |
dc.subject | international cooperation | |
dc.subject | Review | |
dc.subject | DNA sequence | |
dc.subject | haplotype | |
dc.subject | single nucleotide polymorphism | |
dc.subject | genetic association | |
dc.subject | genetic variability | |
dc.subject | gene frequency | |
dc.subject | demography | |
dc.subject | genomics | |
dc.subject | rare disease | |
dc.subject | standard | |
dc.subject | standards | |
dc.subject | disease predisposition | |
dc.subject | information processing | |
dc.subject | population genetics | |
dc.subject | promoter region | |
dc.subject | gene structure | |
dc.subject | Genome, Human | |
dc.subject | high throughput sequencing | |
dc.subject | gene linkage disequilibrium | |
dc.subject | chromosome map | |
dc.subject | Disease Susceptibility | |
dc.subject | exome | |
dc.subject | Exome | |
dc.subject | Genetics, Medical | |
dc.subject | human genetics | |
dc.subject | indel mutation | |
dc.subject | INDEL Mutation | |
dc.subject | medical genetics | |
dc.subject | Physical Chromosome Mapping | |
dc.subject | retroposon | |
dc.title | A global reference for human genetic variation | |
dc.type | info:eu-repo/semantics/article | |