Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer

The past decade has seen the emergence of next-generation sequencing (NGS) technologies, which have revolutionized the field of human molecular genetics. With NGS, significant portions of the human genome can now be assessed by direct sequence analysis, highlighting normal and pathological variants of our DNA. Recent advances have also allowed the sequencing of complete genomes, by a method referred to as whole genome sequencing (WGS). In this work, we review the use of WGS in medical genetics, with specific emphasis on the benefits and the disadvantages of this technique for detecting genomic alterations leading to Mendelian human diseases and to cancer.     

三维打印器件后处理液研究

分析了不同的填充强化剂(后处理A液)、不同的后处理B液基料、后处理B液中水性环氧乳液的掺量及后处理液浸泡时间对石膏基打印器件耐水性、抗压强度、尺寸偏差、表面微观结构的影响.结果表明:经纳米硅超硬固化剂处理后的打印器件抗压强度大幅提高,纳米硅超硬固化剂最适宜作为后处理A液;水性聚氨酯乳液PU-202B最适宜作为后处理B液的基料;后处理B液中加入水性环氧乳液,处理后打印器件的抗压强度增加、吸水率降低,但水性环氧乳液含量增加到一定程度后会出现尺寸偏差;后处理A、B液最佳浸泡时间分别为130 s和35 s;先浸泡后处理A液、后浸泡后处理B液的打印器件具有抗压强度高、吸水率小、表面较光滑、不脱粉等优良性能.     

带变量核的分数次积分交换子在变指数Herz-Morrey空间上的有界性

证明了带变量核的分数次积分算子T_(Ω,μ)与Lipschitz函数b生成的高阶交换子[b~m,T_(Ω,μ)]在变指数Herz-Morrey空间MK_(q,p)~(α,λ)(·)(R~n)上的有界性.     

大学新生入馆教育初探

对新生入学后出现的一些借阅问题进行了有针对性的分析，并提出了相应的解决办法。阐述了新生入馆教育的重要性及其在沟通师生关系、做好服务工作方面的深远意义。     

桅杆结构数据采集软件

文章介绍了桅杆结构数据采集软件的编制 ,并基于HY -8021多功能数据采集板与光电位置传感器的特性 ,使得该软件可满足以低频振动为主的建筑工程结构数据采集的要求。     

Variations in Variation and Selection: The Ubiquity of the Variation-and-Selective-Retention Ratchet in Emergent Organizational Complexity, Part II: Quantum Field Theory

If the general arguments concerning theinvolvement of variation and selection inexplanations of ``fit'' are valid, then variationand selection explanations should beappropriate, or at least potentiallyappropriate, outside the paradigm historisticdomains of biology and knowledge. In thisdiscussion, I wish to indicate some potentialroles for variation and selection infoundational physics – specifically inquantum field theory. I will not be attemptingany full coherent ontology for quantum fieldtheory – none currently exists, and none islikely for at least the short term future. Instead, I wish to engage in some partiallyspeculative interpretations of some interestingresults in this area with the aim ofdemonstrating that variation and selectionnotions might play a role even here. Ifvariation and selection can survive in even asinhospitable and non-paradigmatic a terrain asfoundational physics, then it can surviveanywhere.     

自主机器人人工进化方法研究

在介绍人工进化研究状况的基础上 ,着重阐述了进化机器人学的关键问题 :基本概念、进化技术、进化计算和实验研究方法等 ,探索了进化机器人学未来的研究趋势及所面临的挑战 .