A global reference for human genetic variation
© 2015 Macmillan Publishers Limited. All rights reserved. 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.
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Auton, A., Abecasis, G., Altshuler, D., Durbin, R., Bentley, D., Chakravarti, A., Clark, A., Donnelly, P., Eichler, E., Flicek, P., Gabriel, S., Gibbs, R., Green, E., Hurles, M., Knoppers, B., Korbel, J., Lander, E., Lee, C., Lehrach, H., Mardis, E., Marth, G., McVean, G., Nickerson, D., Schmidt, J., Sherry, S., Wang, J., Wilson, R., Boerwinkle, E., Doddapaneni, H., Han, Y., Korchina, V., Kovar, C., Lee, S., & Muzny, D. (2015). A global reference for human genetic variation. Nature, 526 (7571), 68-74. https://doi.org/10.1038/nature15393