We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1%, a large increase in the number of SNPs tested in association studies and can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently.

This review describes recent advances in the propane dehydrogenation process in terms of emerging technologies, catalyst development and new chemistry.

Summary We describe a novel computational method for genotyping repeats using sequence graphs. This method addresses the long-standing need to accurately genotype medically important loci containing repeats adjacent to other variants or imperfect DNA repeats such as polyalanine repeats. Here we introduce a new version of our repeat genotyping software, ExpansionHunter, that uses this method to perform targeted genotyping of a broad class of such loci. Availability and implementation ExpansionHunter is implemented in C++ and is available under the Apache License Version 2.0. The source code, documentation, and Linux/macOS binaries are available at https://github.com/Illumina/ExpansionHunter/. Supplementary information Supplementary data are available at Bioinformatics online.

The active sites for CO2 electroreduction (CO2R) to multi-carbon (C2+) products over oxide-derived copper (OD-Cu) catalysts are under long-term intense debate. This paper describes the atomic structure motifs for product-specific active sites on OD-Cu catalysts in CO2R. Herein, we describe realistic OD-Cu surface models by simulating the oxide-derived process via the molecular dynamic simulation with neural network (NN) potential. After the analysis of over 150 surface sites through NN potential based high-throughput testing, coupled with density functional theory calculations, three square-like sites for C–C coupling are identified. Among them, Σ3 grain boundary like planar-square sites and convex-square sites are responsible for ethylene production while step-square sites, i.e. n(111) × (100), favor alcohols generation, due to the geometric effect for stabilizing acetaldehyde intermediates and destabilizing Cu–O interactions, which are quantitatively demonstrated by combined theoretical and experimental results. This finding provides fundamental insights into the origin of activity and selectivity over Cu-based catalysts and illustrates the value of our research framework in identifying active sites for complex heterogeneous catalysts.

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Metal nanowire networks (MNNs) are promising as transparent electrode materials for a diverse range of optoelectronic devices and also work as active materials for electrical heating and electromagnetic interference (EMI) shielding applications. However, the relatively low performance and poor durability of MNNs are limiting the practical application of the resulting devices. Here, we report a controllable approach to enhance the conductivity and the stability of MNNs with their transmittance remaining unchanged, in which reduced graphene oxide conformally wrapped silver nanowire networks (AgNW@rGO networks) are synthesized by selective electrodeposition of GO nanosheets on AgNWs followed by a pulsed laser irradiation treatment. Experimental characterizations and finite-difference time-domain simulations indicate that pulsed laser irradiation at a specific wavelength not only reduces the GO but also welds the AgNWs together through a surface plasmon resonance process. As a result, the AgNW@rGO networks exhibit low sheet resistance of 3.3 Ω/□, average transmittance of 91.1%, and good flexibility. Wrapping with rGO improves the maximum electrical heating temperature of the AgNW network transparent heaters due to the effective suppression of the oxidation and the migration of surface silver atoms. In addition, excellent EMI shielding effectiveness of up to 35.5 dB in the 8.2−12.4 GHz frequency range is obtained as a consequence of the combined effects of dual reflection, conduction loss, and multiple dielectric polarization relaxation processes.

Accurate detection and genotyping of structural variations (SVs) from short-read data is a long-standing area of development in genomics research and clinical sequencing pipelines. We introduce Paragraph, an accurate genotyper that models SVs using sequence graphs and SV annotations. We demonstrate the accuracy of Paragraph on whole-genome sequence data from three samples using long-read SV calls as the truth set, and then apply Paragraph at scale to a cohort of 100 short-read sequenced samples of diverse ancestry. Our analysis shows that Paragraph has better accuracy than other existing genotypers and can be applied to population-scale studies.

Oxygen chemistry plays a pivotal role in numerous chemical reactions. In particular, selective cleavage of C–H bonds by metal oxo species is highly desirable in dehydrogenation of light alkanes. However, high selectivity of alkene is usually hampered through consecutive oxygenation reactions in a conventional oxidative dehydrogenation (ODH) scheme. Herein, we show that dual-functional Mo–V–O mixed oxides selectively convert propane to propylene via an alternative chemical looping oxidative dehydrogenation (CL-ODH) approach. At 500 °C, we obtain 89% propylene selectivity at 36% propane conversion over 100 dehydrogenation–regeneration cycles. We attribute such high propylene yieldwhich exceeds that of previously reported ODH catalyststo the involvement and precise modulation of bulk lattice oxygen via atomic-scale doping of Mo and show that increasing the binding energy of V–O bonds is critical to enhance the selectivity of propylene. This work provides the fundamental understanding of metal–oxygen chemistry and a promising strategy for alkane dehydrogenation.