Valerio Costa

TL;DR: The paper aims to give a survey of the RNA-Seq methodology, particularly focusing on the challenges that this application presents both from a biological and a bioinformatics point of view.

TL;DR: An overview on gene expression profiling of complex diseases, with emphasis on RNA-Seq, its advantages over conventional technologies for studying cancer and ND, and for linking nucleotide variations to gene expression changes are provided, also discussing its limitations.

TL;DR: It is shown how integrating ChIP-seq and RNA-seq data can help to elucidate gene regulatory mechanisms and propose potential directions for statistical data integration.

TL;DR: The complete transcriptome of human trisomic endothelial progenitor cells is analysed for the first time to an unprecedented level of resolution and sensitivity by RNA-sequencing, offering the possibility of investigating in-depth blood-related pathological features of Down syndrome, as well as other genetic disorders.

TL;DR: DNA-Sequ for identifying—within both coding and regulatory regions of PPARG gene—novel nucleotide variations and haplotypes associated to human diseases, ChIP-Seq for defining a PPARγ binding map, and RNA-Seqa for unraveling the wide and intricate gene pathways regulated by PPARg, represent incredible steps toward the understanding ofPPARγ in health and disease.