AD51B in Familial Breast Cancer

Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11–1.19, P = 8.88 x 10−16) and among familial cases (OR: 1.24, 95% CI: 1.16–1.32, P = 6.19 x 10−11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk

Recent work at Kabul National Museum and Kabul University

The Minaret of Jam Archaeological Project (MJAP) travelled to Afghanistan in July 2007, planning to present a series of seminars on archaeological survey techniques in Kabul University and to undertake three weeks of survey work in Ghur province. A combination of circumstances restricted our activities to Kabul, so MJAP skills and resources were redirected to work at the Kabul National Museum, at the invitation of Mr. Masoudi, General Director of Museums. This short report summarizes what we achieved during the 2007 season

Precipitation Estimation: From the RAO to EURAINSAT and Beyond

The key objective of the project “Use of the MSG SEVIRI channels in a combined SSM/I, TRMM and geostationary IR method for rapid updates of rainfall” is the development of algorithms for rapid-update of satellite rainfall estimations at the geostationary (GEO) scale. The new channels available with the Spinning Enhanced Visible and Infrared Imager (SEVIRI) radiometer in the visible (VIS), near infrared (NIR) and infrared (IR) portions of the spectrum provide new insights into the microphysical and dynamic structure of precipitating clouds thus allowing for a more precise identification of precipitation intensities. Passive microwave (PMW) radiometers on board low Earth orbiting (LEO) satellites are used to determine information on the vertical cloud structure. Key features of the new method(s) are: 1. Microphysical characterization of precipitating clouds with VIS/IR sensors; 2. Creation of cloud microphysical and radiative databases from cloud model outputs and aircraft penetrations; 3. Tuning of PMW algorithms for different cloud systems (maritime, continental, convective, stratiform,...); 4. Combination of data from different algorithms and application to a rapid update cycle at the GEO scale. The project provided the background for EURAINSAT “European Satellite Rainfall Estimation and Monitoring at the Geostationary Scale”, a research project co-funded by the Energy, Environment and Sustainable Development Programme of the European Commission within the topic “Development of generic Earth observation technologies”. The project web site is accessible at http://www.isac.cnr.it/~eurainsat/. Moreover, it has represented the European framework for the launch of the International Precipitation Working Group (IPWG)

The Joint IPWG/GEWEX Precipitation Assessment

International audienc

Short hypervariable microhaplotypes: A novel set of very short high discriminating power loci without stutter artefacts

Molecular Technology and Informatics for Personalised Medicine and Healt

A Study of Detecting Social Interaction with Sensors in a Nursing Home Environment

Abstract. Social interaction plays an important role in our daily lives. It is one of the most important indicators of physical or mental diseases of aging patients. In this paper, we present a Wizard of Oz study on the feasibility of detecting social interaction with sensors in skilled nursing facilities. Our study explores statistical models that can be constructed to monitor and analyze social interactions among aging patients and nurses. We are also interested in identifying sensors that might be most useful in interaction detection; and determining how robustly the detection can be performed with noisy sensors. We simulate a wide range of plausible sensors using human labeling of audio and visual data. Based on these simulated sensors, we build statistical models for both individual sensors and combinations of multiple sensors using various machine learning methods. Comparison experiments are conducted to demonstrate the effectiveness and robustness of the sensors and statistical models for detecting interactions.