The Characterization of Twenty Sequenced Human Genomes

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...

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Bibliografiske detaljer
Main Authors: Pelak, Kimberly, Shianna, Kevin V., Ge, Dongliang, Maia, Jessica M., Zhu, Mingfu, Smith, Jason P., Cirulli, Elizabeth T., Fellay, Jacques, Dickson, Samuel P., Gumbs, Curtis E., Heinzen, Erin L., Need, Anna C., Ruzzo, Elizabeth K., Singh, Abanish, Campbell, C. Ryan, Hong, Linda K., Lornsen, Katharina A., McKenzie, Alexander M., Sobreira, Nara L. M., Hoover-Fong, Julie E., Milner, Joshua D., Ottman, Ruth, Haynes, Barton F., Goedert, James J., Goldstein, David B.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2010
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2936541/
https://ncbi.nlm.nih.gov/pubmed/20838461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1001111
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