this approach is fundamentally changing the way genetic disease studies are pursued. Moreover, despite the fact that sequencing an entire genome is still prohibitively expensive (i.e., ~$16,000 per individual), whole genome sequencing is set to become the standard as costs continue to fall with increasing instrument output. In the meantime, intermediate sequencing techniques are being pursued, such as sequencing only the exome, the set of all exons that code for proteins (which constitutes ~34 million bases, or ~1% of the total sequence).