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Title: The characterization of twenty sequenced human genomes.
Authors: Pelak K,  Shianna KV,  Ge D,  Maia JM,  Zhu M,  Smith JP,  Cirulli ET,  Fellay J,  Dickson SP,  Gumbs CE,  Heinzen EL,  Need AC,  Ruzzo EK,  Singh A,  Campbell CR,  Hong LK,  Lornsen KA,  McKenzie AM,  Sobreira NL,  Hoover-Fong JE,  Milner JD,  Ottman R,  Haynes BF,  Goedert JJ,  Goldstein DB
Journal: PLoS Genet
Date: 2010 Sep
Branches: IIB
PubMed ID: 20838461
PMC ID: PMC2936541
Abstract: 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 hemophilia A is easily recognizable in this data set. We also show that the number of novel single nucleotide variants (SNVs) discovered per genome seems to stabilize at about 144,000 new variants per genome, after the first 15 individuals have been sequenced. Finally, we find that, on average, each genome carries 165 homozygous protein-truncating or stop loss variants in genes representing a diverse set of pathways.