Scientific Publications

Disease gene discovery through integrative genomics.

Publication TypeJournal Article
AuthorsGiallourakis, C., Henson C., Reich M., Xie X., and Mootha VK
AbstractThe availability of complete genome sequences and the wealth of large-scale biological data sets now provide an unprecedented opportunity to elucidate the genetic basis of rare and common human diseases. Here we review some of the emerging genomics technologies and data resources that can be used to infer gene function to prioritize candidate genes. We then describe some computational strategies for integrating these large-scale data sets to provide more faithful descriptions of gene function, and how such approaches have recently been applied to discover genes underlying Mendelian disorders. Finally, we discuss future prospects and challenges for using integrative genomics to systematically discover not only single genes but also entire gene networks that underlie and modify human disease.
Year of Publication2011
JournalAnnual review of genomics and human genetics
Volume6
Pages381-406
Date Published (YYYY/MM/DD)2011/12/08
ISSN Number1527-8204
DOI10.1146/annurev.genom.6.080604.162234
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/16124867?dopt=Abstract