title: Illumina HiSeq 2000 paired end sequencing; Exomes of human leukemic JMML (Juvenile MyeloMonocytic Leukemia) cells and paired fibroblasts (germilne controls) when available
design: Exomes of human leukemic JMML (Juvenile MyeloMonocytic Leukemia) cells and paired fibroblasts (germilne controls) when available
library_construction_protocol: The study included 15 patients (7 males, 8 females) with JMML. Peripheral blood and/or bone marrow aspirates were collected on EDTA at diagnosis. Non-hematopoietic tissues (fibroblasts) was derived from skin biopsy for each patient xhen available Genomic DNA was extracted from mononuclear cells and fibroblasts using a Qiagen Mini or Midi Kit (Qiagen Gmbh). RNA was extracted from mononuclear cells using the miRNeasy Mini Kit (Qiagen). Concentrations were measured using a NanoDrop® (Thermo Scientific). Targeted enrichment and massive parallel sequencing were performed on paired genomic DNA from leukocytes and fibroblasts. Exome capture was carried out using the SureSelect Human All Exon V4+UTRs or V5 or V5+UTRs or SureSelect Clinical Research (Agilent Technologies, Santa Clara, CA, USA) according to manufacturer's instruction and protocols.