Key Points Ex vivo drug profiling captures disease-relevant features and relevant sensitivity to therapeutic agents in ALL. A subset of drug-resistant T-ALL without mutations in ABL1 is highly responsive to dasatinib, which provides a rationale for drug repurposing.

No abstract

We describe a paternity case with three genetic incompatibilities between a three-year-old boy and his putative father.STR analysis of 2 out of 25 markers revealed the absence of paternal alleles and presence of two maternal alleles at D2S441 and D2S1338 loci in the child. The rest 23 STR markers served to confirm paternity. In addition, we analyzed Y-STRs and determined the same haplotype in the child and his putative father.With massive parallel sequencing on HID Ion GeneStudio S5 System using Precision ID GlobalFiler NGS STR Panel v2 (Applied Biosystems) we confirmed the presence of two alleles of maternal origin at D2S441, D2S1338 loci and identified two maternal alleles at additional locus D2S1776 located on chromosome 2 in the child.Finally, we confirm paternity. Three loci 'exclusion' was due to maternal uniparental disomy of chromosome 2 in the child.

No abstract

To handle the growing number of forensic casework samples we decided to automate our trace sample workflow using PrepFiler 1 a magnetic bead based DNA extraction kit, on a Tecan liquid handling workstation Freedom EVO 1 150. Even though there was a manufacturer-supplied validated protocol for the automated PrepFiler 1 DNA extraction, substantial changes were needed in order to obtain the optimal DNA yield and elution volume to meet the needs of our laboratory for further downstream applications. In this study, optimal lysis condition, elution volume and elution temperature were determined for the automated PrepFiler 1 extraction using blood samples on cotton swabs. Additionally, a comparison with the manual in-house method Chelex-100 1 was made using a variety of forensic mock samples on swabs. We tested blood, saliva and contact traces from a variety of substrates, with 10 replicates of each type. With the automated PrepFiler 1 system, the DNA yield obtained was around 30-70% lower than with Chelex-100 1 . However, the purity of the extracts was higher. Allele recovery of the STR profiles obtained with AmpFlSTR 1 NGM SElect TM kit was comparable. Furthermore we found that, besides the kit-specific optimization factors, swab characteristics are of major importance for the success of PrepFiler 1 DNA extraction. We incorporated the optimized PrepFiler 1 protocol on Freedom EVO 1 150 into our routine workflow and included quality controls to maintain contamination-free and efficient DNA extraction with no evidence for loss of magnetic beads.2015 Elsevier Ireland Ltd. All rights reserved.