We describe the landscape of somatic genomic alterations based on multidimensional and comprehensive characterization of more than 500 glioblastoma tumors (GBMs). We identify several novel mutated genes as well as complex rearrangements of signature receptors, including EGFR and PDGFRA. TERT promoter mutations are shown to correlate with elevated mRNA expression, supporting a role in telomerase […]
Brennan CW, Verhaak RG, McKenna A, Campos B, Noushmehr H, Salama SR, Zheng S, Chakravarty D, Sanborn JZ, Berman SH, Beroukhim R, Bernard B, Wu CJ, Genovese G, Shmulevich I, Barnholtz-Sloan J, Zou L, Vegesna R, Shukla SA, Ciriello G, Yung WK, Zhang W, Sougnez C, Mikkelsen T, Aldape K, Bigner DD, Van Meir EG, […]
Understanding how genetic variants impact the regulation and expression of genes is important for forging mechanistic links between variants and phenotypes in personal genomics studies. In this work, we investigate statistical interactions among variants that alter gene expression and identify 79 genes showing highly significant interaction effects consistent with genetic heterogeneity. Of the 79 genes, […]
Turner SD, Bush WS,. Understanding how genetic variants impact the regulation and expression of genes is important for forging mechanistic links between variants and phenotypes in personal genomics studies. In this work, we investigate statistical interactions among variants that alter gene expression and identify 79 genes showing highly significant interaction effects consistent with genetic heterogeneity. […]
Bush WS, Dudek SM, Ritchie MD,. Parallel multifactor dimensionality reduction is a tool for large-scale analysis of gene-gene and gene-environment interactions. The MDR algorithm was redesigned to allow an unlimited number of study subjects, total variables and variable states, and to remove restrictions on the order of interactions being analyzed. In addition, the algorithm is […]
Parallel multifactor dimensionality reduction is a tool for large-scale analysis of gene-gene and gene-environment interactions. The MDR algorithm was redesigned to allow an unlimited number of study subjects, total variables and variable states, and to remove restrictions on the order of interactions being analyzed. In addition, the algorithm is markedly more efficient, with approximately 150-fold […]