Now showing items 1-2 of 2

    • Rare variants create synthetic genome-wide associations. 

      Dickson, Samuel P; Wang, Kai; Krantz, Ian; Hakonarson, Hakon; Goldstein, David B (PLoS Biol, 2010-01-26)
      Genome-wide association studies (GWAS) have now identified at least 2,000 common variants that appear associated with common diseases or related traits (http://www.genome.gov/gwastudies), hundreds of which have been convincingly ...
    • The characterization of twenty sequenced human genomes. 

      Pelak, Kimberly; Shianna, Kevin V; Ge, Dongliang; Maia, Jessica M; Zhu, Mingfu; Smith, Jason P; Cirulli, Elizabeth T; ... (25 authors) (PLoS Genet, 2010-09-09)
      We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals ...