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.     

Rediscovery of Disepyris semiruber (Kieffer) (Hymenoptera: Bethylidae) in Southern Africa,with first description of the male

Holepyris semiruber Kieffer is redescribed and illustrated based on freshly collected specimens. Holepyris semiruber var. striatipleura Kieffer is considered a colour variant of this species and therefore a junior synonym of H. semiruber syn. nov. This species is transferred to Disepyris, D. semiruber (Kieffer) comb. nov., based on the possession of a short 2r-rs&Rs vein in the fore wing and presence of long flat spine-shaped setae on the outer (posterior) surface of the protarsi. The male is described for the first time from new specimens collected in South Africa. This species is recorded for the first time from Namibia and Zimbabwe. All photographs are available on www.waspweb.org.     

体育消费的学理脉络、统计内容及其实施策略

采用文献资料法，依次从学理脉络、统计内容及其实施策略展开关于体育消费以及体育消费统计的讨论。认为：从学理上看，体育消费作为一个复杂概念，既牵涉宏观经济社会发展，也与文化意识形态紧密联系；而作为准确把握体育市场、把脉体育发展情况的基础性工作之一，体育消费统计则应该避免将体育消费概念泛化。应以体育政策为导向，面向人民的美好生活需要，对接国民经济统计制度，考虑建构以“体育教育与培训、体育文化与娱乐、体育保健与康复、体育传媒与信息、体育衣着耐用品、其他体育用品与服务、个人间接体育消费”为核心指标的统计框架，并通过长效工作方案的设计使体育消费统计工作制度化，通过统计调查制度的建构使体育消费统计执行有效化，通过统计数据的测算推算使体育消费统计结果精准化。     

Designing Uniform Computer Sequential Experiments with Mixture Levels Using Lee Discrepancy

Computer experiments are constructed to simulate the behavior of complex physical systems. Uniform designs have good performance in computer experiments from several aspects. In practical use, the experimenter needs to choose a small size uniform design at the beginning of an experiment due to a limit of time, budget, resources, and so on, and later conduct a follow up experiment to obtain precious information about the system, that is, a sequential experiment. The Lee distance has been widely used in coding theory and its corresponding discrepancy is an important measure for constructing uniform designs. This paper proves that all the follow up designs of a uniform design are uniform and at least two of them can be used as optimal follow up experimental designs. Thus, it is not necessary that the union of any two uniform designs yields a uniform sequential design. Therefore, this article presents a theoretical justification for choosing the best follow up design of a uniform design to construct a uniform sequential design that involves a mixture of ω≥ 1 factors with β_k ≥ 2, 1 ≤ k ≤ωlevels. For illustration of the usage of the proposed results, a closer look is given at using these results for the most extensively used six particular cases, three symmetric and three asymmetric designs, which are often met in practice.     

The modernity of Dedekind’s anticipations contained in What are numbers and what are they good for?

Archive for History of Exact Sciences - We show that Dedekind, in his proof of the principle of definition by mathematical recursion, used implicitly both the concept of an inductive cone from an...     

Synopsis of ‘onychocellid’ cheilostome bryozoan genera

Genera assigned to the cheilostome bryozoan family Onychocellidae are revised based on the skeletal morphology of the type species and, when possible, the type material of these species. All genera are illustrated using scanning electron micrographs, some for the first time. Onychocellidae, which ranges from the Cenomanian stage of the Cretaceous to the Recent, has been a particularly troublesome family because of poorly defined generic concepts correlating at least in part with a paucity of morphological characters. Thirty-five genera are described in this review. Of these, two are recognised as subjective synonyms of other onychocellid genera (Rhebasia and Semieschara), one cannot be sufficiently characterised from the type material (Collura), and two are new: Aechmellina gen. nov. (type species Aechmella falcifera) and Kamilocella gen. nov. (type species Eschara latilabris). A neotype is chosen for Rhagasostoma hexagonum, the type species of Rhagasostoma. A key is provided to assist in the identification of onychocellid genera. Phylogenetic relationships between genera remain obscure and are unlikely to be fully resolved based on skeletal morphology alone. The family as an entity is loosely circumscribed and almost certainly paraphyletic, containing stem genera of other anascan familes such as Lunulitidae, Coscinopleuridae and Aspidostomatidae.

www.zoobank.org/urn:lsid:org:pub:63A31AD2-F049-42CB-A45B-557014DC286E