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Abstract Disease-causing variants have been identified for less than 20% of suspected equine genetic diseases. Whole genome sequencing (WGS) allows rapid identification of rare disease causal variants. However, interpreting the clinical variant consequence is confounded by the number of predicted deleterious variants that healthy individuals carry (predicted genetic burden). Estimation of the predicted genetic burden and baseline frequencies of known deleterious or phenotype associated variants within and across the major horse breeds have not been performed. We used WGS of 605 horses across 48 breeds to identify 32,818,945 variants, demonstrate a high predicted genetic burden (median 730 variants/horse, interquartile range: 613–829), show breed differences in predicted genetic burden across 12 target breeds, and estimate the high frequencies of some previously reported disease variants. This large-scale variant catalog for a major and highly athletic domestic animal species will enhance its ability to serve as a model for human phenotypes and improves our ability to discover the bases for important equine phenotypes.

Abstract This work thoroughly investigates chemical solvent-particles interactions during the formation of composite particles by pulsed laser melting of α-Fe2O3. Two solvents, with different dielectric constants, such as ethyl acetate (εr = 6) and ethanol (εr = 24.6), were examined in terms of their effect on the morphology, size, and phase composition of iron oxide composites. We calculated the laser fluence curves using the heating-melting-evaporation approach to identify the critical particle size that undergoes the phase changes first. We assessed the temperature of the particles irradiated with 390 mJ/pulse.cm2 in both solvents, including the heat dissipation between the particles and the liquid. The phase diagram of the Fe–O–C–H system was calculated to determine the temperature–pressure relationship of the system in equilibrium. We also employed an in situ GC–MS analysis to identify the volatile products during irradiation. Based on our experimental results, we concluded that the final diameter of the composites increases from 400 to 600 nm, along with the decreasing dielectric constant of the solvent, which is related to the different polarization of the organic liquid and the degree of particle agglomeration. The reduction of hematite in ethanol proceeded much faster, ending up with Fe/FeCx, while in ethyl acetate, it ended up with Fe3O4. Among all the particles, those with a diameter of 200 nm have the highest temperature and undergo the phase transition first. The temperature of a 200 nm composite particle in ethanol is slightly lower than in ethyl acetate, i.e. 1870 K as compared to 1902 K. Phase equilibrium diagrams proved the existence of Fe, FeO, and Fe3O4 as the preferred phases at about 1900 K. Our research provides a new insight into the process of submicron particle formation during pulsed laser irradiation and allows proposing a mechanism for the growth of particles of different size and phase composition depending on the solvent.

Abstract Optomechanical crystal cavities (OMC) have rich perspectives for detecting and indirectly analysing biological particles, such as proteins, bacteria and viruses. In this work we demonstrate the working principle of OMCs operating under ambient conditions as a sensor of submicrometer particles by optically monitoring the frequency shift of thermally activated mechanical modes. The resonator has been specifically designed so that the cavity region supports a particular family of low modal-volume mechanical modes, commonly known as -pinch modes-. These involve the oscillation of only a couple of adjacent cavity cells that are relatively insensitive to perturbations in other parts of the resonator. The eigenfrequency of these modes decreases as the deformation is localized closer to the centre of the resonator. Thus, by identifying specific modes that undergo a frequency shift that amply exceeds the mechanical linewidth, it is possible to infer if there are particles deposited on the resonator, how many are there and their approximate position within the cavity region. OMCs have rich perspectives for detecting and indirectly analysing biological particles, such as proteins, viruses and bacteria.

Nanostructuring of silicon allows acoustic phonon engineering, but the mechanism of related thermal transport in these structures is not fully understood. Here, the authors study the heat dissipation in silicon membranes with periodic nanoholes and show the importance of incoherent scattering.