Outlier Analysis and Top Scoring Pair for Integrated Data Analysis and Biomarker Discovery

IEEE/ACM Trans Comput Biol Bioinform. 2014 May-Jun;11(3):520-32. doi: 10.1109/TCBB.2013.153.

Abstract

Pathway deregulation has been identified as a key driver of carcinogenesis, with proteins in signaling pathways serving as primary targets for drug development. Deregulation can be driven by a number of molecular events, including gene mutation, epigenetic changes in gene promoters, overexpression, and gene amplifications or deletions. We demonstrate a novel approach that identifies pathways of interest by integrating outlier analysis within and across molecular data types with gene set analysis. We use the results to seed the top-scoring pair algorithm to identify robust biomarkers associated with pathway deregulation. We demonstrate this methodology on pediatric acute myeloid leukemia (AML) data. We develop a biomarker in primary AML tumors, demonstrate robustness with an independent primary tumor data set, and show that the identified biomarkers also function well in relapsed pediatric AML tumors.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Biomarkers, Tumor / analysis*
  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • Child
  • Gene Expression Profiling / methods*
  • Genomics / methods*
  • Humans
  • Leukemia, Myeloid / genetics*
  • Leukemia, Myeloid / metabolism
  • Methylation
  • Models, Statistical
  • Signal Transduction

Substances

  • Biomarkers, Tumor