Cancer Institute A national cancer institute
designated cancer center

Stefanie S. Jeffrey, MD

Publication Details

  • Disease-specific genomic analysis: identifying the signature of pathologic biology BIOINFORMATICS Nicolau, M., Tibshirani, R., Borresen-Dale, A., Jeffrey, S. S. 2007; 23 (8): 957-965


    Genomic high-throughput technology generates massive data, providing opportunities to understand countless facets of the functioning genome. It also raises profound issues in identifying data relevant to the biology being studied.We introduce a method for the analysis of pathologic biology that unravels the disease characteristics of high dimensional data. The method, disease-specific genomic analysis (DSGA), is intended to precede standard techniques like clustering or class prediction, and enhance their performance and ability to detect disease. DSGA measures the extent to which the disease deviates from a continuous range of normal phenotypes, and isolates the aberrant component of data. In several microarray cancer datasets, we show that DSGA outperforms standard methods. We then use DSGA to highlight a novel subdivision of an important class of genes in breast cancer, the estrogen receptor (ER) cluster. We also identify new markers distinguishing ductal and lobular breast cancers. Although our examples focus on microarrays, DSGA generalizes to any high dimensional genomic/proteomic data.

    View details for DOI 10.1093/bioinformatics/btm033

    View details for Web of Science ID 000246293000006

    View details for PubMedID 17277331

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