The advent of next generation sequencing technologies allows one to discover nearly all rare variants in a genomic region of interest. This technological development increases the need for an effective statistical method for testing the aggregated effect of rare variants in a gene on disease susceptibility. The idea behind this approach is that if a certain gene is involved in a disease, many rare variants within the gene will disrupt the function of the gene and are associated with the disease. In this article, we present the rare variant weighted aggregate statistic (RWAS), a method that groups rare variants and computes a weighted sum of differences between case and control mutation counts. We show that our method outperforms the groupwise association test of Madsen and Browning in the disease-risk model that assumes that each variant makes an equally small contribution to disease risk. In addition, we can incorporate prior information into our method of which variants are likely causal. By using simulated data and real mutation screening data of the susceptibility gene for ataxia telangiectasia, we demonstrate that prior information has a substantial influence on the statistical power of association studies. Our method is publicly available at
The gradual depletion of global fossil energy and environmental pollution make the development of hydrogen energy imminent. Two-dimensional g-C3N4 (CN) based heterostructures have attracted considerable research interest in photocatalytic H2...
Herein, a novel 2D/2D heterostructure, phosphorus‐doped carbon nitride nanosheet/zinc porphyrin metal–organic framework (MOF) (HPCNN/ZnPMOF), is elaborately fabricated through an electrostatic self‐assembly process for photocatalytic H2 evolution from water splitting. The as‐prepared HPCNN/ZnPMOF 2D/2D photocatalyst displays the highest H2 evolution rate of 65.3 mmol g−1 h−1 under simulated solar irradiation, which is 2.2 and 49.1 times higher than that of HPCNN and ZnPMOF, respectively. The enhanced photocatalytic activity can be ascribed to the intimate contact interface and the shortened migration distance formed by the unique 2D/2D structure, resulting in dramatically enhanced separation and transfer efficiencies of hole–electron pairs. Furthermore, P doping endows carbon nitride with more separation sites of photoinduced charge carriers and consequently establishes type‐II heterojunction with ZnPMOF. This work shed lights on the potential of designing the highly efficient MOF/g‐C3N4 2D/2D system for water splitting H2 evolution.
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