DAC Accession Contact Person Email Access Information
EGAC00001000162 Remco M. Hoogenboezem r.hoogenboezem@erasmusmc.nl http://www.ebi.ac.uk/ega/dacs/EGAC00001000162

This DAC controls 2 datasets:

Dataset Accessionsort descending Technology Samples Description
EGAD00001000726 Illumina HiSeq 2500; 30 In total 30 Acute Myeloid Leukemias with an acquired inv(3)(q21q26) or t(3;3)(q21;q26) have been characterized by whole transcriptome sequencing (RNA-Seq). The 3q-aberration leads to overexpression of the proto-oncogene EVI1, but the mechanism of overexpression has thus far been elusive. The RNA-Seq was integral in determining the precise enhancer inducing the overexpression and led to other key discoveries.
EGAD00001000727 Illumina HiSeq 2500; 38 Targeted resequencing on the specific regions chr3:126036241-130672290 and chr3:157712147-175694147 in hg19 centered on the chromosomal regions 3q21 and 3q26 respectively. The focus lies on the detection of the exact breakpoints in Acute Myeloid Leukemia (AML) patients having acquired a inv(3)(q21q26) or t(3;3)(q21;q26). This dataset contains all information to detect all structural variants contained within these regions, including the 3q-aberrations inducing the overexpression of the proto-oncogene EVI1.

DAC description