A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis

To identify susceptibility loci for ankylosing spondylitis, we performed a two-stage genome-wide association study in Han Chinese. In the discovery stage, we analyzed 1,356,350 autosomal SNPs in 1,837 individuals with ankylosing spondylitis and 4,231 controls; in the validation stage, we analyzed 30 suggestive SNPs in an additional 2,100 affected individuals and 3,496 controls. We identified two new susceptibility loci between EDIL3 and HAPLN1 at 5q14.3 (rs4552569; P = 8.77 × 10(-10)) and within ANO6 at 12q12 (rs17095830; P = 1.63 × 10(-8)). We also confirmed previously reported associations in Europeans within the major histocompatibility complex (MHC) region (top SNP, rs13202464; P < 5 × 10(-324)) and at 2p15 (rs10865331; P = 1.98 × 10(-8)). We show that rs13202464 within the MHC region mainly represents the risk effect of HLA-B*27 variants (including HLA-B*2704, HLA-B*2705 and HLA-B*2715) in Chinese. The two newly discovered loci implicate genes related to bone formation and cartilage development, suggesting their potential involvement in the etiology of ankylosing spondylitis.     

A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia

Non-obstructive azoospermia (NOA) is one of the most severe forms of male infertility. Its pathophysiology is largely unknown, and few genetic influences have been defined. To identify common variants contributing to NOA in Han Chinese men, we performed a three-stage genome-wide association study of 2,927 individuals with NOA and 5,734 controls. The combined analyses identified significant (P < 5.0 × 10(-8)) associations between NOA risk and common variants near PRMT6 (rs12097821 at 1p13.3: odds ratio (OR) = 1.25, P = 5.7 × 10(-10)), PEX10 (rs2477686 at 1p36.32: OR = 1.39, P = 5.7 × 10(-12)) and SOX5 (rs10842262 at 12p12.1: OR = 1.23, P = 2.3 × 10(-9)). These findings implicate genetic variants at 1p13.3, 1p36.32 and 12p12.1 in the etiology of NOA in Han Chinese men.     

基于UDEC巷道掘进矿压显现的数值模拟

通过采用UDEC软件,依据钻孔柱状图和采掘应力影响范围建立了相应的几何模型,根据煤岩体物理力学性质建立相应的材料模型,在此基础上结合地应力数据,从而完成数值模型.通过模拟实际巷道开挖尺寸及方位,得出巷道前方的应力分布和巷道两帮位移分布,为巷道冲击地压显现防治提供了理论支持.     

重症急性胰腺炎病人外周血单个核细胞线粒体DNA拷贝数的意义

目的探讨重症急性胰腺炎患者外周血单个核细胞线粒体DNA拷贝数与患者病情严重程度、预后的相关性。方法分离研究对象（重症急性胰腺炎患者34名,健康对照组17名）外周血单个核细胞,采用荧光实时定量PCR检测各组PBMC线粒体DNA相对舍量,其与严重程度、预后的相关性。结果重症急性胰腺炎患者线粒体DNA含量较健康对照组明显降低（P〈0．05）。患者单个核细胞线粒体DNA拷贝教与APACHEⅡ评分呈负相关（r=-0．425）其中并发症组mtDNA拷贝数显著低于无并发症组（P〈0．05）。结论重症急性胰腺炎患者外周血单个核细胞中线粒体DNA含量显著下降,与患者APACHEⅡ评分呈负相关,且低水平的线粒体DNA拷贝数提示并发症发生率的升高,因此,线粒体DNA拷贝数可作为潜在评估患者病情危重程度及预后的指标,这一发现值得进一步大型,前瞻性的研究。     

Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder

Transitional cell carcinoma (TCC) is the most common type of bladder cancer. Here we sequenced the exomes of nine individuals with TCC and screened all the somatically mutated genes in a prevalence set of 88 additional individuals with TCC with different tumor stages and grades. In our study, we discovered a variety of genes previously unknown to be mutated in TCC. Notably, we identified genetic aberrations of the chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A and CHD6) in 59% of our 97 subjects with TCC. Of these genes, we showed UTX to be altered substantially more frequently in tumors of low stages and grades, highlighting its potential role in the classification and diagnosis of bladder cancer. Our results provide an overview of the genetic basis of TCC and suggest that aberration of chromatin regulation might be a hallmark of bladder cancer.     

超临界CO2萃取法提取库尔勒香梨精油及其成分分析研究

采用超临界CO2萃取法提取库尔勒香梨精油,用气相色谱-串联质谱技术对其成分进行分析,并对几种提取方法进行综合比较。结果表明,与水蒸气蒸馏法、固相微萃取法相比,超临界CO2萃取法具有香梨精油提取率最高,为0．0549％。感官分析的结果表明,超临界CO2萃取法所得的库尔勒香梨精油颜色为橙色透明液体,而且风味好。气相色谱-质谱联用（GC-MS）分析结果表明：超临界CO2萃取法所得的香梨精油中共鉴定出28种成分。丁酸乙酯、顺-7-十四烯-1-醇和乙酸己酯的含量最高,含量分别为5．19％、4．85％和4．37％。     

PsmArena: Partitioned Shared Memory for NUMA-Awareness in Multithreaded Scientific Applications

The Distributed Shared Memory(DSM) architecture is widely used in today's computer design to mitigate the ever-widening processing-memory gap, and it inevitably exhibits Non-Uniform Memory Access(NUMA) to shared-memory parallel applications. Failure to adapt to the NUMA effect can significantly downgrade application performance, especially on today's manycore platforms with tens to hundreds of cores. However, traditional approaches such as first-touch and memory policy fall short in false page-sharing, fragmentation, or ease of use. In this paper, we propose a partitioned shared-memory approach that allows multithreaded applications to achieve full NUMA-awareness with only minor code changes and develop an accompanying NUMA-aware heap manager which eliminates false page-sharing and minimizes fragmentation. Experiments on a 256-core cc-NUMA computing node show that the proposed approach helps applications to adapt to NUMA with only minor code changes and improves the performance of typical multithreaded scientific applications by up to 4.3 folds with the increased use of cores.     

Long Text Classification Algorithm Using a Hybrid Model of Bidirectional Encoder Representation from Transformers-Hierarchical Attention Networks-Dilated Convolutions Network

Text format information is full of most of the resources of Internet,which puts forward higher and higher requirements for the accuracy of text classification.T...     

对称熵损失下两个指数总体均值的序约束估计

在对称熵损失下, 讨论了样本容量相等时, 两个指数总体均值λ_i(i=1,2)的约束极大似然估计i的险, 其中约束为λ₁≤λ₂. 证明了λ₁与λ₂具有比经典极大似然估计X₁与X₂ 更小的风险, 并给出了当λ₂/λ₁→∞和n→∞时,λ_i对X_i(i=1,2)渐近功效e(λ_i,X_i)的值.     

利用相位调制器实现占空比可调的NRZ到RZ码的码型转换

提出了利用相位调制器和色散补偿光纤(DCF)把非归零(NRZ)码信号转换成为占空比可调的归零(RZ)码信号的方案.从原理上分析了调制信号功率与色散介质色散量对所产生结果的影响,得到通过改变调制深度和DCF总色散量可以使NRZ码转换为占空比可调的RZ码的结论.实验给出了在10Gb/s速率下的实验结果,得到了很好的转换后的RZ码输出.在17dBm的调制功率下,所得的RZ码占空比为32.6%.