Project description:We hypothesized that mapping genetic variants associated with promoter and enhancer functions can provide novel insights into the mechanism through which eQTLs (expression quantitative trait loci) exert their effects on gene expression. To this end, we quantified genome-wide promoter usage and enhancer activity and tested the resulting molecular phenotypes for association with nearby genetic variants to discover cis-QTLs. To perform such analyzes, we have produced deep transcriptome profiling of 154 unrelated central European individuals, applying deepCAGE (Cap Analysis of Gene Expression) to nuclear enriched total RNA extracted from EBV transformed lymphoblastoid cell lines (LCLs). The LCLs were either purchased from Coriell Cell Repository (CEU, n=86) or from the GenCord collection (n=68, Gutierrez-Arcelus M et al. Elife 2013).
Project description:Study of AMl clonal phylogeny. Fastq files from targeted resequencing and from exome sequencing from AML patients at diagnosis, complete remission or relapse time.