[Book Review] OMURA, Yutaka. 2008. The fundamental study regarding the history of prehistoric archaeology in Japan:The study of Sugao Yamanouchi and those around him Rokuichisyobo, pp.1-215.

大村 裕著『日本先史考古学史の基礎研究-山内清男の学問とその周辺の人々-』A5判 215頁,六一書房,2008年5月刊,本体価格2,500円+税本稿は大村裕氏『日本先史考古学史の基礎研究-山内清男の学問とその周辺の人々-』の書評である。著者はまず日本先史考古学の基盤を築いた山内清男を基軸として、その周囲に展開した研究者の活動を対象としつつ、わが国の先史考古学研究史の再検討を試みる。その中でとくに山内の先人として、その学問形成に直接的な影響を与えたと想定される研究者についてやや予察的な検討を行っている。これは、隣接する学問分野(人類学・歴史学・民俗学・社会学など)の方法論を採り入れたものであり、今後とも斯学に新たな視点を提供していくものと思われる。また、著者は研究史的な検証と併行して、山内の学問的体系とは如何なるものなのかということについても考究した。様々な資料を駆使して、山内が残した論文を詳細に読み解いていく手法は堅実で説得力がある。とくに従来、余りにも素朴に考えられてきた「繩紋」という用語について、原典の丹念な読解によって、その理解に一入の深化を与えたと言える。また文様帯系統論についても、その発想の根源にある生物学的な知見に注目し、難解と言われてきた理論の理解を援ける視点を提供した。さらに、これらを総合し、著者自身が直面する学問的課題に対処するための方法を実際の資料に即して展開したことは、山内の学問に真摯に学んだ研究者のものとして、後学にも資するところ大であると思われる

Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline

<p>Abstract</p> <p>Background</p> <p>Next-generation amplicon sequencing enables high-throughput genetic diagnostics, sequencing multiple genes in several patients together in one sequencing run. Currently, no open-source out-of-the-box software solution exists that reliably reports detected genetic variations and that can be used to improve future sequencing effectiveness by analyzing the PCR reactions.</p> <p>Results</p> <p>We developed an integrated database oriented software pipeline for analysis of 454/Roche GS-FLX amplicon resequencing experiments using Perl and a relational database. The pipeline enables variation detection, variation detection validation, and advanced data analysis, which provides information that can be used to optimize PCR efficiency using traditional means. The modular approach enables customization of the pipeline where needed and allows researchers to adopt their analysis pipeline to their experiments. Clear documentation and training data is available to test and validate the pipeline prior to using it on real sequencing data.</p> <p>Conclusions</p> <p>We designed an open-source database oriented pipeline that enables advanced analysis of 454/Roche GS-FLX amplicon resequencing experiments using SQL-statements. This modular database approach allows easy coupling with other pipeline modules such as variant interpretation or a LIMS system. There is also a set of standard reporting scripts available.</p

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulation have only partly been elucidated, including its transport, metabolism, and genetic determinants. Here we report a large meta-analysis of genome-wide association studies for thyroid function and dysfunction, testing 8 million genetic variants in up to 72,167 individuals. One-hundred-and-nine independent genetic variants are associated with these traits. A genetic risk score, calculated to assess their combined effects on clinical end points, shows significant associations with increased risk of both overt (Graves' disease) and subclinical thyroid disease, as well as clinical complications. By functional follow-up on selected signals, we identify a novel thyroid hormone transporter (SLC17A4) and a metabolizing enzyme (AADAT). Together, these results provide new knowledge about thyroid hormone physiology and disease, opening new possibilities for therapeutic targets