Discovery of Western European R1b1a2 Y chromosome variants in 1000 genomes project data: an online community approach

PLoS One. 2012;7(7):e41634. doi: 10.1371/journal.pone.0041634. Epub 2012 Jul 24.


The authors have used an online community approach, and tools that were readily available via the Internet, to discover genealogically and therefore phylogenetically relevant Y-chromosome polymorphisms within core haplogroup R1b1a2-L11/S127 (rs9786076). Presented here is the analysis of 135 unrelated L11 derived samples from the 1000 Genomes Project. We were able to discover new variants and build a much more complex phylogenetic relationship for L11 sub-clades. Many of the variants were further validated using PCR amplification and Sanger sequencing. The identification of these new variants will help further the understanding of population history including patrilineal migrations in Western and Central Europe where R1b1a2 is the most frequent haplogroup. The fine-grained phylogenetic tree we present here will also help to refine historical genetic dating studies. Our findings demonstrate the power of citizen science for analysis of whole genome sequence data.

MeSH terms

  • Chromosomes, Human, Y / genetics*
  • Databases, Genetic*
  • Europe
  • Genetic Variation*
  • Genome, Human / genetics*
  • Haplotypes / genetics*
  • Human Genome Project*
  • Humans
  • Online Systems*
  • Reproducibility of Results