  Significant volumes of knowledge have been accumulated in recent years
linking subtle genetic variations to a wide variety of medical disorders from
Cystic Fibrosis to mental retardation. Nevertheless, there are still great
challenges in applying this knowledge routinely in the clinic, largely due to
the relatively tedious and expensive process of DNA sequencing. Since the
genetic polymorphisms that underlie these disorders are relatively rare in the
human population, the presence or absence of a disease-linked polymorphism can
be thought of as a sparse signal. Using methods and ideas from compressed
sensing and group testing, we have developed a cost-effective genotyping
protocol. In particular, we have adapted our scheme to a recently developed
class of high throughput DNA sequencing technologies, and assembled a
mathematical framework that has some important distinctions from 'traditional'
compressed sensing ideas in order to address different biological and technical
constraints.
