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Cancer Informatics

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An Integrative Genomics Approach to Biomarker Discovery in Breast Cancer

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Publication Date: 25 Jul 2011

Type: Original Research

Journal: Cancer Informatics

Citation: Cancer Informatics 2011:10 185-204

doi: 10.4137/CIN.S6837

Abstract

Genome-wide association studies (GWAS) have successfully identified genetic variants associated with risk for breast cancer. However, the molecular mechanisms through which the identified variants confer risk or influence phenotypic expression remains poorly understood. Here, we present a novel integrative genomics approach that combines GWAS information with gene expression data to assess the combined contribution of multiple genetic variants acting within genes and putative biological pathways, and to identify novel genes and biological pathways that could not be identified using traditional GWAS. The results show that genes containing SNPs associated with risk for breast cancer are functionally related and interact with each other in biological pathways relevant to breast cancer. Additionally, we identified novel genes that are co-expressed and interact with genes containing SNPs associated with breast cancer. Integrative analysis combining GWAS information with gene expression data provides functional bridges between GWAS findings and biological pathways involved in breast cancer.


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What Your Colleagues Say About Cancer Informatics
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Compared with other journals we considered for publishing, Cancer Informatics provided extremely rapid but quality turnaround from draft submission to a flawlessly typeset final publication.  Moreover, sharing the article is now as easy as sharing a link with no subscriptions required, and additional code and data files are equally accessible, supporting reproducible research.  Because it has published many of our references we feel confident that our target readership must follow the journal.  This is further ...
Dr Seppo Karrila (Prince of Songkla University, Thailand)
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