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Abstract We investigated the effectiveness of exome sequencing (ES) in diagnosing ethnically diverse patients with rare genetic disorders. A total of 18,994 patients referred to a single reference laboratory for ES between 2020 and 2022 were studied for the diagnostic rate and factors influencing the diagnostic rate. The overall diagnostic rate was 31.8%. Dermatological disorders, skeletal disorders, and neurodevelopmental disorders disease categories, early age-of-onset, presence of consanguinity, and the presence of parental sequencing data were found to be correlated with a higher diagnostic rate. Nearly 68K variants were identified in our dataset at a higher frequency than that observed in gnomAD 4.0. Of these, 507 variants could be classified as likely benign, representing 0.04% of non-benign variants in ClinVar (507/1,433,904) and 0.20% of the non-benign ClinVar variants observed at least once in our cohort (507/276,777). The overall diagnostic rate is comparable to that observed in other large cohort studies with less diverse ethnic backgrounds.

Poxviruses are enveloped DNA viruses that replicate within the cytoplasm. The first viral structures are crescents and spherical particles, with a lipoprotein membrane bilayer, that are thought to be derived from the ER. We determined that A17, a conserved viral transmembrane protein essential for crescent formation, forms homo-oligomers and shares topological features with cellular reticulon-like proteins. The latter cell proteins promote membrane curvature and contribute to the tubular structure of the ER. When the purified A17 protein was incorporated into liposomes, 25 nm diameter vesicles and tubules formed at low and high A17 concentrations, respectively. In addition, intracellular expression of A17 in the absence of other viral structural proteins transformed the ER into aggregated three-dimensional (3D) tubular networks. We suggest that A17 is a viral reticulon-like protein that contributes to curvature during biogenesis of the poxvirus membrane.

The critical heat flux during pool boiling has been investigated for a range of applications including electrical power generation and thermal management. Reported experimental CHF values during pool boiling of water on flat metallic surfaces, however, show a large discrepancy across studies. Here, we address this discrepancy in CHF values by accounting for oxidation of metallic surfaces during boiling. We studied the effect of in situ oxidation on flat Cu and Ni surfaces by changing the duration that samples were held in saturated water before conducting boiling experiments. The morphology and chemical composition of surfaces after the boiling experiments were analyzed by atomic force microscopy and X-ray photoelectron spectroscopy, respectively. Cu surfaces showed gradually increasing CHF values as the duration in saturated water increased, which could be attributed to the increase in roughness due to the formation of Cu2O nanostructures. Conversely, Ni surfaces showed relatively stable CHF and morphology as a nearly flat layer of NiO formed, with one exception: formation of a highly wetting hydroxide, Ni(OH)2, on a Ni coupon held in saturated water for 24 h resulted in a uniquely high CHF value, signifying the importance of surface chemistry in addition to morphology. The fundamental mechanisms resulting in the wide spread of CHF values on metallic surfaces elucidated in this work will lead to more accurate estimation of CHF as well as a deeper mechanistic understanding of CHF values on engineered surfaces.

Surface engineering has been leveraged by researchers to enhance boiling heat transfer performance, with benefits ranging from improved thermal management to more efficient power generation. While engineered surfaces fabricated using cleanroom processes have shown promising boiling results, scalable methods for surface engineering are still limited despite most real-world industry-scale applications involving large boiling areas. In this work, we investigate the use of sandblasting as a scalable surface engineering technique for the enhancement of pool boiling heat transfer. We vary the size of an abrasive Al2O3 sandblasting medium (25, 50, 100, and 150 μm) and quantify its effects on silicon surface conditions and boiling characteristics. The surface morphology and capillary wicking performance are characterized by optical profilometry and capillary rise tests, respectively. Pool boiling results and surface characterization reveal that surface roughness and volumetric wicking rate increase with the abrasive size, which results in improvements in the critical heat flux and the heat transfer coefficient of up to 192.6 and 434.3% compared to a smooth silicon surface, respectively. The significant enhancement achieved with sandblasted surfaces indicates that sandblasting is a promising option for improving boiling performance in industry-scale applications.