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.     

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.     

矿井索车的优化设计

对矿井索车优化设计中的几个关键性问题进行了探讨，包括驱动轮和尾轮的设计、钢丝绳直径的选择计算、托绳轮间距的确定、绳卡的设计、张紧力和张紧行程的确定、互锁问题的解决等。     

建筑物地基处理的设计与施工探讨

以具体工程为例，介绍了建筑物地基处理的设计、施工中遵循的原则，施工中遇到特殊情况时采取的处理方法和必要的检测方法，对几种桩基的设计要求、施工工艺及过程、质量控制等情况进行了简单阐述。     

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 .     

Environmental Friendly Route and Wool Shrink Proofing

The shrink proofing on wool with treatment of protease named Argaenzyme STL was studied. The various pretreating auxiliaries, different parameters for protease treating process and the effect of stabilizer were discussed in detail. The varieties of some properties before and after protease treatment were also investigated.     

西文期刊回溯建库中几个重要项目的著录

在实践的基础上，从期刊的出版日期、出版周期、卷、期、年、月及其他标识、ISSN、增刊、出版者以及期刊的历史发展等方面对西文期刊机读目录的标准化著录问题进行了探讨。     

Permutation Analysis of Track and Column Braiding

Introduction Trackandcolumnbraidingisanavailable3D braidingmethod[1～3],whichperformsbraidingprocessbymovingbraidingcarriersalongroworcolumndirection alternatively.LiandDing[4]examinethebraidingmethod andconcentratetheirstudyonthemovementofbraiding carriersonthebraidingplatform,onwhichthebraiding tracksarelocated.Accordingtothebraidingprinciple,a studyofbraidingprocessisactuallyastudyofthemovingpatternofyarnendsonthebraidingplatform.Intheiranotherpaper[6],thepositionsofbraidingcarriersare r…