百年回眸诺贝尔生理或医学奖

正诺贝尔生理学或医学奖,是根据已故的瑞典化学家阿尔弗雷德·诺贝尔的遗嘱而设立的,目的在于表彰前一年世界上在生理学或者医学领域有重要发现或发明的人。该奖项于1901年首次颁发,由瑞典首都斯德哥尔摩的医科大学卡罗琳学院负责评选,颁奖仪式于每年12月10日(诺贝尔逝世的周年纪念日)举行。诺贝尔生理学或医学奖从1901年开始颁奖以来,已经颁发     

读书汇报

最近粗粗学习了一下几位师友的赠书。分享如下： 当金钱不再至上! 《当金钱不再至上——知识生产革命与经济发展方式转变》,侯若石著。非常有幸,我成为该书较早的赠读者。对于我等非经济专业的人士来说,不太容易理解书名的意思。     

利用多正弦窗谱分析检测色噪声中的谐波信号

利用最小化代价函数推导了一种谱分析的多窗口方法 ,得到了一组彼此正交的、具有简洁正弦窗形式的多窗口序列。以此为基础 ,结合统计分析的假设检验方法 ,可以利用多正弦窗谱分析技术对色噪声中的谐波信号进行检测 ,准确地估计信号包含的谐波频率及各个谐波的幅度。仿真实验证明了该方法的有效性和正确性。     

ON THE ORDERING OF A CLASS OF HEXAGONAL CHAINS WITH RESPECT TO MERRIFIELD-SIMMONS INDEX

A hexagonal system is regarded as a 2-connected plane graph in which every finite region is aregular hexagon of unit side length. Hexagonal systems are of great importance for theoreticalchemistry because they are the natural graph representation of benzenoid hydrocarbonsll].Merrifield-Simmons index of a hexagonal system was extensively studied in connection withcertain topological problems of chemistry[']. A hexagonal chain is a hexagonal system with theproperties that (a) it has no vertex be…     

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC). Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. These findings, enabled in part by increased statistical power resulting from the expansion of the control reference group to include individuals from the other disease groups, highlight notable new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major 'seronegative' diseases.     

价值工程方法在矿用链条加工中的应用研究

运用价值分析法对矿用高强度圆环链的加工过程进行诊断分析,通过对象选择、功能系统分析、功能评价,提出优化方案,降低了原材料成本,从而提高链条企业的经济效益.     

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

We present an approximate conditional and joint association analysis that can use summary-level statistics from a meta-analysis of genome-wide association studies (GWAS) and estimated linkage disequilibrium (LD) from a reference sample with individual-level genotype data. Using this method, we analyzed meta-analysis summary data from the GIANT Consortium for height and body mass index (BMI), with the LD structure estimated from genotype data in two independent cohorts. We identified 36 loci with multiple associated variants for height (38 leading and 49 additional SNPs, 87 in total) via a genome-wide SNP selection procedure. The 49 new SNPs explain approximately 1.3% of variance, nearly doubling the heritability explained at the 36 loci. We did not find any locus showing multiple associated SNPs for BMI. The method we present is computationally fast and is also applicable to case-control data, which we demonstrate in an example from meta-analysis of type 2 diabetes by the DIAGRAM Consortium.     

Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs

Schizophrenia is a complex disorder caused by both genetic and environmental factors. Using 9,087 affected individuals, 12,171 controls and 915,354 imputed SNPs from the Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (PGC-SCZ), we estimate that 23% (s.e. = 1%) of variation in liability to schizophrenia is captured by SNPs. We show that a substantial proportion of this variation must be the result of common causal variants, that the variance explained by each chromosome is linearly related to its length (r = 0.89, P = 2.6 × 10(-8)), that the genetic basis of schizophrenia is the same in males and females, and that a disproportionate proportion of variation is attributable to a set of 2,725 genes expressed in the central nervous system (CNS; P = 7.6 × 10(-8)). These results are consistent with a polygenic genetic architecture and imply more individual SNP associations will be detected for this disease as sample size increases.     

Evidence of widespread selection on standing variation in Europe at height-associated SNPs

Strong signatures of positive selection at newly arising genetic variants are well documented in humans, but this form of selection may not be widespread in recent human evolution. Because many human traits are highly polygenic and partly determined by common, ancient genetic variation, an alternative model for rapid genetic adaptation has been proposed: weak selection acting on many pre-existing (standing) genetic variants, or polygenic adaptation. By studying height, a classic polygenic trait, we demonstrate the first human signature of widespread selection on standing variation. We show that frequencies of alleles associated with increased height, both at known loci and genome wide, are systematically elevated in Northern Europeans compared with Southern Europeans (P < 4.3 × 10(-4)). This pattern mirrors intra-European height differences and is not confounded by ancestry or other ascertainment biases. The systematic frequency differences are consistent with the presence of widespread weak selection (selection coefficients ～10(-3)-10(-5) per allele) rather than genetic drift alone (P < 10(-15)).     

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 in eight families with LCA, including the family in which LCA was originally linked to the LCA9 locus. Notably, all individuals with NMNAT1 mutations also have macular colobomas, which are severe degenerative entities of the central retina (fovea) devoid of tissue and photoreceptors. Functional assays of the proteins encoded by the mutant alleles identified in our study showed that the mutations reduce the enzymatic activity of NMNAT1 in NAD biosynthesis and affect protein folding. Of note, recent characterization of the slow Wallerian degeneration (Wld(s)) mouse model, in which prolonged axonal survival after injury is observed, identified NMNAT1 as a neuroprotective protein when ectopically expressed. Our findings identify a new disease mechanism underlying LCA and provide the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder.