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Screening the human exome: a comparison of whole genome and whole transcriptome sequencing.
(Genome Biol, 2010)
BACKGROUND: There is considerable interest in the development of methods to efficiently identify all coding variants present in large sample sets of humans. There are three approaches possible: whole-genome sequencing, ...
The characterization of twenty sequenced human genomes.
(PLoS Genet, 2010-09-09)
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 ...