No abstract

Background and objectives Next generation sequencing (NGS) has promising applications in transfusion medicine. Exome sequencing (ES) is increasingly used in the clinical setting, and blood group interpretation is an additional value that could be extracted from existing data sets. We provide the first release of an open‐source software tailored for this purpose and describe its validation with three blood group systems. Materials and methods The DTM‐Tools algorithm was designed and used to analyse 1018 ES NGS files from the ClinSeq® cohort. Predictions were correlated with serology for 5 antigens in a subset of 108 blood samples. Discrepancies were investigated with alternative phenotyping and genotyping methods, including a long‐read NGS platform. Results Of 116 genomic variants queried, those corresponding to 18 known KEL, FY and JK alleles were identified in this cohort. 596 additional exonic variants were identified KEL, ACKR1 and SLC14A1, including 58 predicted frameshifts. Software predictions were validated by serology in 108 participants; one case in the FY blood group and three cases in the JK blood group were discrepant. Investigation revealed that these discrepancies resulted from (1) clerical error, (2) serologic failure to detect weak antigenic expression and (3) a frameshift variant absent in blood group databases. Conclusion DTM‐Tools can be employed for rapid Kell, Duffy and Kidd blood group antigen prediction from existing ES data sets; for discrepancies detected in the validation data set, software predictions proved accurate. DTM‐Tools is open‐source and in continuous development.

Non-equilibrated (non-thermal) plasma generated by short (ns), high-voltage (kV) pulses has attractive electron characteristics that fundamentally and favorably alter precombustion chemistry and physics [1]. This technology has been demonstrated in applications for airborne engines, including pulse detonation engines [2], in collaborative studies with Nissan in applications for internal combustion engines [3], as well as for more fundamental studies [4]. We report recent studies where two compact power modulator systems are used to produce nonequilibrium plasma in the transient, formative phase of an arc, and are applied to ignition and combustion (transient plasma ignition or TPI) in a constant volume reactor. In this work, ignition delays, a key parameter in the application to pulse detonation engines, were measured in transient plasma ignited C 2 H 4 -air in a constant volume reactor at atmospheric pressure. Two compact power modulators were used; a 12 ns SCRswitched magnetic compression based pulse generator and an 85 ns pseudospark switched line-type pulse generator. The results show that despite the difference in energy delivered (70 mJ vs. 400 mJ), both systems achieve similar ignition delays across a broad range of equivalence ratios, and produce ignition delays up to two times shorter than with traditional spark ignition, confirming previous results obtained in an flowing system (pulse detonation engine) [5]. The results indicate that lower energy, more compact power modulators may be used for this application.