A global reference for human genetic variation

1000 Genomes Project Consortium - Nature, 2015 - pmc.ncbi.nlm.nih.gov
1000 Genomes Project Consortium
Nature, 2015pmc.ncbi.nlm.nih.gov
Human genetic variation in more than 2,500 individuals The 1000 Genomes Project has
sought to comprehensively catalogue human genetic variation across populations, providing
a valuable public genomic resource. The data obtained so far have found applications
ranging from association studies and fine mapping studies to the filtering of likely neutral
variants in rare-disease cohorts. The authors now report on the final phase of the project,
phase 3, which covers previously uncharacterized areas of human genetic diversity in terms …
Human genetic variation in more than 2,500 individuals The 1000 Genomes Project has sought to comprehensively catalogue human genetic variation across populations, providing a valuable public genomic resource. The data obtained so far have found applications ranging from association studies and fine mapping studies to the filtering of likely neutral variants in rare-disease cohorts. The authors now report on the final phase of the project, phase 3, which covers previously uncharacterized areas of human genetic diversity in terms of the populations sampled and categories of characterized variation. The sample now includes more than 2,500 individuals from 26 global populations, with low coverage whole-genome and deep exome sequencing, as well as dense microarray genotyping. They find that while most common variants are shared across populations, rarer variants are often restricted to closely related populations. The authors also demonstrate the use of the phase 3 dataset as a reference panel for imputation to improve the resolution in genetic association studies. Supplementary information The online version of this article (doi:10.1038/nature15393) contains supplementary material, which is available to authorized users.
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