Scientific Publications   Publication TypeJournal Article
AuthorsMootha, Vamsi K., Lepage Pierre, Miller Kathleen,
Bunkenborg Jakob, Reich Michael, Hjerrild Majbrit, Delmonte
Terrye, Villeneuve Amelie, Sladek Robert, Xu Fenghao, Mitchell
Grant A., Morin Charles, Mann Matthias, Hudson Thomas J.,
Robinson Brian, and Rioux John D. AbstractIdentifying the genes
responsible for human diseases requires combining information
about gene position with clues about biological function. The
recent availability of whole-genome data sets of RNA and protein
expression provides powerful new sources of functional insight.
Here we illustrate how such data sets can expedite disease-gene
discovery, by using them to identify the gene causing Leigh
syndrome, French-Canadian type (LSFC, Online Mendelian
Inheritance in Man no. 220111), a human cytochrome c oxidase
deficiency that maps to chromosome 2p16-21. Using four public
RNA expression data sets, we assigned to all human genes a
"score" reflecting their similarity in RNA-express