for the MilSeq Project BACKGROUND: Genotyping has expanded the number red blood cell (RBC) and platelet (PLT) antigens that can readily be typed, but often represents an additional testing cost. The analysis of existing genomic data offers a cost-effective approach. We recently developed automated software (bloodTyper) for determination of RBC and PLT antigens from whole genome sequencing. Here we extend the algorithm to whole exome sequencing (WES). STUDY DESIGN AND METHODS: Whole exomesequencing was performed on samples from 75 individuals. WES-based bloodTyper RBC and PLT typing was compared to conventional polymerase chain reaction (PCR) RHD zygosity testing and serologic and single-nucleotide polymorphism (SNP) typing for 38 RBC antigens in 12 systems (17 serologic and 35 SNPs) and 22 PLT antigens (22 SNPs). Samples from the first 20 individuals were used to modify bloodTyper to interpret WES followed by blinded typing of 55 samples. RESULTS:Over the first 20 samples, discordances were noted for C, M, and N antigens, which were due to WES-specific biases. After modification, bloodTyper was 100% accurate on blinded evaluation of the last 55 samples and outperformed both serologic (99.67% accurate) and SNP typing (99.97% accurate) reflected by two Fy b and one N serologic typing errors and one undetected SNP encoding a Jk null phenotype. RHD zygosity testing by bloodTyper was 100% concordant with a combination of hybrid Rhesus box PCR and PCRrestriction fragment length polymorphism for all samples. CONCLUSION:The automated bloodTyper software was modified for WES biases to allow for accurate RBC and PLT antigen typing. Such analysis could become a routing part of future WES efforts.

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BackgroundThe inability of patients to accurately and completely recount their clinical status between clinic visits reduces the clinician’s ability to properly manage their patients. One way to improve this situation is to collect objective patient information while the patients are at home and display the collected multi-day clinical information in parallel on a single screen, highlighting threshold violations for each channel, and allowing the viewer to drill down to any analog signal on the same screen, while maintaining the overall physiological context of the patient. All this would be accomplished in a way that was easy for the clinician to view and use.MethodsPatients used five mobile devices to collect six heart failure-related clinical variables: body weight, systolic and diastolic blood pressure, pulse rate, blood oxygen saturation, physical activity, and subjective input. Fourteen clinicians practicing in a heart failure clinic rated the display using the System Usability Scale that, for acceptability, had an expected mean of 68 (SD, 12.5). In addition, we calculated the Intraclass Correlation Coefficient of the clinician responses using a two-way, mixed effects model, ICC (3,1).ResultsWe developed a single-screen temporal hierarchical display (VISION) that summarizes the patient’s home monitoring activities between clinic visits. The overall System Usability Scale score was 92 (95% CI, 87-97), p < 0.0001; the ICC was 0.89 (CI, 0.79-0.97), p < 0.0001.ConclusionClinicians consistently found VISION to be highly usable. To our knowledge, this is the first single-screen, parallel variable, temporal hierarchical display of both continuous and discrete information acquired by patients at home between clinic visits that presents clinically significant information at the point of care in a manner that is usable by clinicians.

MiCare is a promising tool to improve patient-provider communication. However, future studies are needed to better understand why patients within the military healthcare system prefer communication modalities other than MiCare and to identify strategies to decrease provider and staff workloads while using MiCare.