The paper
S.B. Ng et al., “Exome sequencing identifies the cause of a Mendelian disorder,” Nat Genet, 42:30–35, 2009. (ID: 1600956)
The finding:
Tracking down the genetic cause of inherited diseases is time consuming and expensive. But Jay Shendure of the University of Washington’s Department of Genome Sciences found a way to make it a whole lot easier. Instead of looking for problem genes by sequencing the full genome, Shendure’s lab sequenced only the exome—the protein-coding regions of the genome, including the exon boundaries—of patients. In the process, he found the gene that causes Miller syndrome.
The approach:
Sequencing and analyzing the exome makes economic sense: it’s only 1% of the full genome. With the right software tools—and just a little bit of luck—you only need to study a small number of individuals. Shendure’s lab had shown that the idea worked last year when it verified the gene responsible for ...
