Article
The characterization of twenty sequenced human genomes.
PLoS genetics - 9 Sept 2010
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
Abstract excerpt
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 num...
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