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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Detalles Bibliográficos
Autores principales: 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.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2936541/
https://www.ncbi.nlm.nih.gov/pubmed/20838461
http://dx.doi.org/10.1371/journal.pgen.1001111

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