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Analyses of cancer data in the Genomic Data Commons Data Portal with new functionalities in the TCGAbiolinks R/Bioconductor package

By Mohamed Mounir, Tiago C. Silva, Marta Lucchetta, Catharina Olsen, Gianluca Bontempi, Houtan Noushmehr, Antonio Colaprico, Elena Papaleo

Posted 20 Jun 2018
bioRxiv DOI: 10.1101/350439 (published DOI: 10.1371/journal.pcbi.1006701)

The advent of Next Generation Sequencing (NGS) technologies has opened new perspectives in deciphering the genetic mechanisms underlying complex diseases. Nowadays, the amount of genomic data is massive and substantial efforts and new tools are required to unveil the information hidden in the data. The Genomic Data Commons (GDC) Data Portal is a large data collection platform that includes different genomic studies included the ones from The Cancer Genome Atlas (TCGA) and the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) initiatives, accounting for more than 40 tumor types originating from nearly 30000 patients. Such platforms, although very attractive, must make sure the stored data are easily accessible and adequately harmonized. Moreover, they have the primary focus on the data storage in a unique place, and they do not provide a comprehensive toolkit for analyses and interpretation of the data. To fulfill this urgent need, comprehensive but easily accessible computational methods for integrative analyses of genomic data without renouncing a robust statistical and theoretical framework are needed. In this context, the R/Bioconductor package TCGAbiolinks was developed, offering a variety of bioinformatics functionalities. Here we introduce new features and enhancements of TCGAbiolinks in terms of i) more accurate and flexible pipelines for differential expression analyses, ii) different methods for tumor purity estimation and filtering, iii) integration of normal samples from the Genotype-Tissue-Expression (GTEx) platform iv) support for other genomics datasets, here exemplified by the TARGET data. Evidence has shown that accounting for tumor purity is essential in the study of tumorigenesis, as these factors promote confounding behavior regarding differential expression analysis. Henceforth, we implemented these filtering procedures in TCGAbiolinks. Moreover, a limitation of some of the TCGA datasets is the unavailability or paucity of corresponding normal samples. We thus integrated into TCGAbiolinks the possibility to use normal samples from the Genotype-Tissue Expression (GTEx) project, which is another large-scale repository cataloging gene expression from healthy individuals. The new functionalities are available in the TCGABiolinks v 2.8 and higher released in Bioconductor version 3.7.

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