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LIFE SCIENCE TECHNOLOGIES: Exome Sequencing: Toward an Interpretable Genome

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Science  11 Oct 2013:
Vol. 342, Issue 6155, pp. 262-264
DOI: 10.1126/science.342.6155.262


The U.S. National Human Genome Research Institute says it can sequence genomes for $5,826 as of April 2013—just 0.006% of the $95.2 million per-genome price tag in September 2001. Commercial entities can do it for even less, and by the end of 2013, the cost could well dip below $1,000. Yet even at that low, low price, whole genome sequencing isn't cheap, at least not when researchers need to decode them by the thousands. Enter exome sequencing. Faster, cheaper, and more easily interpreted than its full-sized counterpart, an exome is to a genome as an abstract is to a research article: concise, information-rich, and easily digested.