The Characterization of Twenty Sequenced Human Genomes

@inproceedings{Pelak2010TheCO,
  title={The Characterization of Twenty Sequenced Human Genomes},
  author={Kimberly Pelak and Kevin V. Shianna and Dongliang Ge and Jessica M. Maia and Mingfu Zhu and Jason Paul Smith and Elizabeth T. Cirulli and Jacques Fellay and Samuel P. Dickson and Curtis E. Gumbs and Erin L. Heinzen and Anna C. Need and Elizabeth K. Ruzzo and Abanish Singh and Colin R. Campbell and Linda Hong and Katharina A. Lornsen and Alexander M. McKenzie and Nara Lygia Macena Sobreira and Julie E Hoover-Fong and Joshua D. Milner and Ruth Ottman and Barton F. Haynes and James J Goedert and David B Goldstein},
  booktitle={PLoS genetics},
  year={2010}
}
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 with severe hemophilia A and ten "control" genomes. We summarize the number of genetic variants emerging from a study of this magnitude, and provide a proof of concept for the identification of rare and highly-penetrant functional variants by confirming that the cause of… CONTINUE READING

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