Extraction of Molecular Features through Exome to Transcriptome Alignment.

摘要: Integrative Next Generation Sequencing (NGS) DNA and RNA analyses have very recently become feasible, the published to date studies discovered critical disease implicated pathways, diagnostic therapeutic targets. A growing number of exomes, genomes transcriptomes from same individual are quickly accumulating, providing unique venues for mechanistic regulatory features analysis, and, at time, requiring new exploration strategies. In this study, we integrated variation expression information four NGS datasets individual: normal tumor breast exomes transcriptomes. Focusing on SNPcentered variant allelic prevalence, illustrate analytical algorithms that can be applied extract or validate potential elements, such as growth advantage, imprinting, loss heterozygosity (LOH), somatic changes, editing. addition, point some elements might bias output recommend alternative measures maximize confidence findings. The need strategies is especially recognized within appreciation concept systems biology: integrative genome transcriptome reveal insights reach far beyond linear addition datasets.