Figure 1.

Schematic of MPseq AML workflow. Blood or bone marrow samples are processed into fixed cells or extracted for genomic DNA. Fixed cell pellets are processed for karyotype and/or FISH analysis. Genomic DNA is extracted, prepared using the Illumina Nextera Mate Pair library preparation kit and sequenced on a HiSeq 2500. Reads are aligned to the reference genome with BIMA and variants are detected using SVAtools. Two algorithms are utilized for variant detection; junction detection and CNVDetect which also incorporates aneuploidy detection and resulting data are visualized