Use of DNA profiles for investigation using a simulated national DNA database: Part I. Partial SGM Plus profiles.

In traditional criminal investigation, uncertainties are often dealt with using a combination of common sense, practical considerations and experience, but rarely with tailored statistical models. For example, in some countries, in order to search for a given profile in the national DNA database, it must have allelic information for six or more of the ten SGM Plus loci for a simple trace. If the profile does not have this amount of information then it cannot be searched in the national DNA database (NDNAD). This requirement (of a result at six or more loci) is not based on a statistical approach, but rather on the feeling that six or more would be sufficient. A statistical approach, however, could be more rigorous and objective and would take into consideration factors such as the probability of adventitious matches relative to the actual database size and/or investigator's requirements in a sensible way. Therefore, this research was undertaken to establish scientific foundations pertaining to the use of partial SGM Plus loci profiles (or similar) for investigation.

Exposure of the Swiss population by medical x-rays: 2008 review.

Nationwide surveys on radiation dose to the population from medical radiology are recommended in order to follow the trends in population exposure and ensure radiation protection. The last survey in Switzerland was conducted in 1998, and the annual effective dose from medical radiology was estimated to be 1 mSv y(-1) per capita. The purpose of this work was to follow the trends in diagnostic radiology between 1998 and 2008 in Switzerland and determine the contribution of different modalities and types of examinations to the collective effective dose from medical x-rays. For this reason, an online database (www.raddose.ch) was developed. All healthcare providers who hold a license to run an x-ray unit in the country were invited to participate in the survey. More than 225 examinations, covering eight radiological modalities, were included in the survey. The average effective dose for each examination was reassessed. Data from about 3,500 users were collected (42% response rate). The survey showed that the annual effective dose was 1.2 mSv/capita in 2008. The most frequent examinations are conventional and dental radiographies (88%). The contribution of computed tomography was only 6% in terms of examination frequency but 68% in terms of effective dose. The comparison with other countries showed that the effective dose per capita in Switzerland was in the same range as in other countries with similar healthcare systems, although the annual number of examinations performed in Switzerland was higher.

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations.

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).