De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants have been identified in affected individuals, their contribution to risk has yet to be clarified. Specifically, the frequency and distribution of these mutations have not been well characterized in matched unaffected controls, and such data are vital to the interpretation of de novo coding mutations observed in probands. Here we show, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects. On the basis of mutation rates in unaffected individuals, we demonstrate that multiple independent de novo single nucleotide variants in the same gene among unrelated probands reliably identifies risk alleles, providing a clear path forward for gene discovery. Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (sodium channel, voltage-gated, type II, α subunit), a result that is highly unlikely by chance.     

Quantum teleportation over 143 kilometres using active feed-forward

The quantum internet is predicted to be the next-generation information processing platform, promising secure communication and an exponential speed-up in distributed computation. The distribution of single qubits over large distances via quantum teleportation is a key ingredient for realizing such a global platform. By using quantum teleportation, unknown quantum states can be transferred over arbitrary distances to a party whose location is unknown. Since the first experimental demonstrations of quantum teleportation of independent external qubits, an internal qubit and squeezed states, researchers have progressively extended the communication distance. Usually this occurs without active feed-forward of the classical Bell-state measurement result, which is an essential ingredient in future applications such as communication between quantum computers. The benchmark for a global quantum internet is quantum teleportation of independent qubits over a free-space link whose attenuation corresponds to the path between a satellite and a ground station. Here we report such an experiment, using active feed-forward in real time. The experiment uses two free-space optical links, quantum and classical, over 143?kilometres between the two Canary Islands of La Palma and Tenerife. To achieve this, we combine advanced techniques involving a frequency-uncorrelated polarization-entangled photon pair source, ultra-low-noise single-photon detectors and entanglement-assisted clock synchronization. The average teleported state fidelity is well beyond the classical limit of two-thirds. Furthermore, we confirm the quality of the quantum teleportation procedure without feed-forward by complete quantum process tomography. Our experiment verifies the maturity and applicability of such technologies in real-world scenarios, in particular for future satellite-based quantum teleportation.     

混合溶剂、H_2O—H_2O_2中的三元体系

本文系苏联科学院普通与无机化学研究所过氧化物实验室и.и.волЬнОв同志写给我校的一篇评述性论文,并嘱译成中文,在我们学校发表,今特刊出并谨向作者致谢。     

物理、化学和生物学中的复杂非线性过程分析和控制

复杂过程的非线性动力学是一个热门的研究领域,它在基础研究中有大量的著作,在不同的科学领域有广泛的应用。本书是柏林和波茨坦的研究机构在非线性复杂过程方面的最新进展论文集。     

南美直销透视

美国因为国家的强大,仿佛成了美洲的代名词,实际上,美国只处于北美洲。地理上的美洲其实是由南美洲与北美洲共同组成。南美洲,即拉丁美洲。它是世界第四大洲,面积1780万平方公里,人口约3亿7100万。南美洲大部分被茂密的亚马逊热带雨林、湿地沼泽和著名的安地斯山脉所覆盖。[编者按]     

Southern Ocean sea-ice extent, productivity and iron flux over the past eight glacial cycles

Sea ice and dust flux increased greatly in the Southern Ocean during the last glacial period. Palaeorecords provide contradictory evidence about marine productivity in this region, but beyond one glacial cycle, data were sparse. Here we present continuous chemical proxy data spanning the last eight glacial cycles (740,000 years) from the Dome C Antarctic ice core. These data constrain winter sea-ice extent in the Indian Ocean, Southern Ocean biogenic productivity and Patagonian climatic conditions. We found that maximum sea-ice extent is closely tied to Antarctic temperature on multi-millennial timescales, but less so on shorter timescales. Biological dimethylsulphide emissions south of the polar front seem to have changed little with climate, suggesting that sulphur compounds were not active in climate regulation. We observe large glacial-interglacial contrasts in iron deposition, which we infer reflects strongly changing Patagonian conditions. During glacial terminations, changes in Patagonia apparently preceded sea-ice reduction, indicating that multiple mechanisms may be responsible for different phases of CO2 increase during glacial terminations. We observe no changes in internal climatic feedbacks that could have caused the change in amplitude of Antarctic temperature variations observed 440,000 years ago.     

几种光学胶合剂透射光谱的测试研究

给出了冷杉胶、甘油和加拿大树胶3种光学胶合剂在200～15000nm光谱范围的透射光谱曲线．由测试结果可知：在400～2700nm的光谱范围,3种光学胶合剂都有比较高的透射比;在200～400nm,甘油的透射比最好;在波长大于2700nm的光谱区,三者都有几个大小不等的透射峰。     

论非完整系统的哈密顿原理

对非完整系统的哈密顿变分原理已知的三种形式是分别由盖利杰,伏龙茨和苏斯洛夫提出的。在本文中对于一般非线性约束的情形特别是线性约束的情形分析了一些条件,在分析这些条件时导出非完整系统的哈密顿原理的三种形式。证