Whole-genome sequencing (WGS) of parent-offspring trios has become widely used to identify causal copy number variations (CNVs) in rare and complex diseases. Existing CNV detection approaches usually do not make effective use of Mendelian inheritance in parent-offspring trios and yield low accuracy. In this study, we propose a novel integrated approach, TrioCNV2, for jointly detecting CNVs from WGS data of the parent-offspring trio. TrioCNV2 first makes use of the read depth and discordant read pairs to infer approximate locations of CNVs and then employs the split read and local de novo assembly approaches to refine the breakpoints. We use the real WGS data of two parent-offspring trios to demonstrate TrioCNV2’s performance and compare it with other CNV detection approaches. The software TrioCNV2 is implemented using a combination of Java and R and is freely available from the website at https//github.com/yongzhuang/TrioCNV2.

More patients with suspected coronary artery disease underwent coronary computed tomography angiography (CCTA) as gatekeeper. However, the prospective relation of plaque features to acute coronary syndrome (ACS) events has not been previously explored.

One hundred and one out of 452 patients with documented ACS event and received more than once CCTA during the past 12 years were recruited. Other 101 patients without ACS event were matched as case control. Baseline, follow-up, and changes of anatomical, compositional, and haemodynamic parameters [e.g. luminal stenosis, plaque volume, necrotic core, calcification, and CCTA-derived fractional flow reserve (CT-FFR)] were analysed by independent CCTA measurement core laboratories. Baseline anatomical, compositional, and haemodynamic parameters of lesions showed no significant difference between the two cohorts (P > 0.05). While the culprit lesions exhibited significant increase of luminal stenosis (10.18 ± 2.26% vs. 3.62 ± 1.41%, P = 0.018), remodelling ind improve the ability for predicting risks of ACS events.High-quality hexagonal BN (hBN) crystals, owing to their irreplaceable roles in new functional devices such as universal substrates and excellent layered insulators are exceedingly required in the field of two-dimensional (2D) materials. Although large-scale monolayer hBN crystals have been successfully grown on catalytic metals, the synthesis of large-area continuous hBN films with thickness in microns is challenging, hindering their applications at the mesoscopic level. Herein, we report the single-metal flux growth of centimeter-large, micron-thick, and high-quality continuous hBN films by balancing the grain size and coverage. The as-grown films can be readily exfoliated and transferred onto arbitrary substrates. Isotopically engineered hBN crystals can be obtained as well by the method. A-438079 The narrow Raman line widths of the intralayer E2g mode peak (2.9 cm-1 for h11BN, 3.3 cm-1 for h10BN, and 7.9 cm-1 for hNaBN) and ultrahigh thermal conductivity (830 W m-1 K-1 for 4L h11BN) demonstrate high crystal quality and low defect density. Our results provide the foundation for the cost-efficient and lab-achievable synthesis of high-quality hBN films aimed at its mesoscopic applications.This article reports a study of the effects of temperature on chaotropic anion (CA)-induced star-globule shape transitions in acidic water of three-arm star bottlebrushes composed of heterografted poly(ethylene oxide) (PEO) and either poly(2-(N,N-dimethylamino)ethyl methacrylate) (PDMAEMA) or poly(2-(N,N-diethylamino)ethyl methacrylate) (PDEAEMA) (the brushes denoted as SMB-11 and -22, respectively). The brush polymers were synthesized by grafting alkyne-end-functionalized PEO and PDMAEMA or PDEAEMA onto an azide-bearing three-arm star backbone polymer using the copper(i)-catalyzed alkyne-azide cycloaddition reaction. Six anions were studied for their effects on the conformations of SMB-11 and -22 in acidic water super CAs [Fe(CN)6]3- and [Fe(CN)6]4-, moderate CAs PF6- and ClO4-, weak CA I-, and for comparison, kosmotropic anion SO42-. At 25 °C, the addition of super and moderate CAs induced shape transitions of SMB-11 and -22 in pH 4.50 water from a starlike to a collapsed globular state stabilized by PEO side chains, which was driven by the ion pairing of protonated tertiary amine groups with CAs and the chaotropic effect. The shape changes occurred at much lower salt concentrations for super CAs than moderate CAs. Upon heating from near room temperature to 70 °C, the super CA-collapsed brushes remained in the globular state, whereas the moderate CA-collapsed brushes underwent reversible globule-to-star shape transitions. The transition temperature increased with increasing salt concentration and was found to be higher for SMB-22 at the same salt concentration, presumably caused by the chaotropic effect. In contrast, I- and SO42- had small effects on the conformations of SMB-11 and -22 at 25 °C in the studied salt concentration range, and only small and gradual size variations were observed upon heating to 70 °C. The results reported here may have potential uses in the design of stimuli-responsive systems for substance encapsulation and release.Increasing the density of micronutrients and phytochemicals in vegetable foods through plant breeding and processing is of value for consumers. However, the extent to which interactions between genetics and processing (G × P) can be leveraged for green leafy vegetables to improve the delivery of such compounds is unknown. Using spinach as a model, a three-phase in vitro digestion method with and without simulated oral processing (mastication) and coupling to a Caco-2 human intestinal cell culture model was used to determine whether bioaccessibility and intestinal uptake of carotenoids and chlorophylls can be modified from six spinach genotypes, fresh or processed as blanched, sterilized, and juiced products. Carotenoid and chlorophyll bioaccessibility varied significantly with the genotype (p less then 0.001) and processing treatment (p less then 0.001), with processing having a more profound influence on the bioaccessibility, decreasing micellarization of phytochemicals from juiced (25.8-29.3%), to fresh (19.