Structural and electronic properties of diazonium functionalized (4, 4) single walled carbon nanotube : an ab initio study

In this work, ab initio density functional theory (DFT) calculations are performed to study the structural and electronic properties of diazonium reagent functionalized (4, 4) single-walled carbon nanotube (SWCNT). We find the aryl group covalently bonds with SWCNT and prefers to be perpendicular to the side wall of nanotube. It has a rotational barrier of 0.35 eV around the formed aryl-tube bond axis and should be thermodynamically stable at room temperature. Additionally, new peaks appeared around the Fermi energy in the density of state (DOS) due to the weak band dispersion. Increasing of the coverage of the functional group will result in significant upshift of the Fermi level.

Growth of C36-films on diamond surface through molecular dynamics simulation

In this paper, the initial stage of films assembled by energetic C36 fullerenes on diamond (001)–(2 × 1) surface at low-temperature was investigated by molecular dynamics simulation using the Brenner potential. The incident energy was first uniformly distributed within an energy interval 20–50 eV, which was known to be the optimum energy range for chemisorption of single C36 on diamond (001) surface. More than one hundred C36 cages were impacted one after the other onto the diamond surface by randomly selecting their orientation as well as the impact position relative to the surface. The growth of films was found to be in three-dimensional island mode, where the deposited C36 acted as building blocks. The study of film morphology shows that it retains the structure of a free C36 cage, which is consistent with Low Energy Cluster Beam Deposition (LECBD) experiments. The adlayer is composed of many C36-monomers as well as the covalently bonded C36 dimers and trimers which is quite different from that of C20 fullerene-assembled film, where a big polymerlike chain was observed due to the stronger interaction between C20 cages. In addition, the chemisorption probability of C36 fullerenes is decreased with increasing coverage because the interaction between these clusters is weaker than that between the cluster and the surface. When the incident energy is increased to 40–65 eV, the chemisorption probability is found to increased and more dimers and trimers as well as polymerlike-C36 were observed on the deposited films. Furthermore, C36 film also showed high thermal stability even when the temperature was raised to 1500 K.

Aircraft collision avoidance using spherical visual predictive control and single point features

This paper presents practical vision-based collision avoidance for objects approximating a single point feature. Using a spherical camera model, a visual predictive control scheme guides the aircraft around the object along a conical spiral trajectory. Visibility, state and control constraints are considered explicitly in the controller design by combining image and vehicle dynamics in the process model, and solving the nonlinear optimization problem over the resulting state space. Importantly, range is not required. Instead, the principles of conical spiral motion are used to design an objective function that simultaneously guides the aircraft along the avoidance trajectory, whilst providing an indication of the appropriate point to stop the spiral behaviour. Our approach is aimed at providing a potential solution to the See and Avoid problem for unmanned aircraft and is demonstrated through a series.

Analysis of the design-construction supply chain in the thermal performance of sub-tropical and tropical housing

Background: In sub-tropical and tropical Queensland, a legacy of poor housing design,minimal building regulations with few compliance measures, an absence of post-construction performance evaluation and various social and market factors has led to a high and growing penetration of, and reliance on, air conditioners to provide thermal comfort for occupants. The pervasive reliance on air conditioners has arguably impacted on building forms, changed cultural expectations of comfort and social practices for achieving comfort, and may have resulted in a loss of skills in designing and constructing high performance building envelopes. Aim: The aim of this paper is to report on initial outcomes of a project that sought to determine how the predicted building thermal performance of twenty-five houses in subtropical and tropical Queensland compared with objective performance measures and comfort performance as perceived by occupants. The purpose of the project was to shed light on the role of various supply chain agents in the realisation of thermal performance outcomes. Methodology: The case study methodology embraced a socio-technical approach incorporating building science and sociology. Building simulation was used to model thermal performance under controlled comfort assumptions and adaptive comfort conditions. Actual indoor climate conditions were measured by temperature and relative humidity sensors placed throughout each house, whilst occupants’ expectations of thermal comfort and their self-reported behaviours were gathered through semi-structured interviews and periodic comfort surveys. Thermal imaging and air infiltration tests, along with building design documents, were analysed to evaluate the influence of various supply chain agents on the actual performance outcomes. Results: The results clearly show that in the housing supply chain – from designer to constructor to occupant – there is limited understanding from each agent of their role in contributing to, or inhibiting, occupants’ comfort.

Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes

Multiple sclerosis (MS) is a common chronic inflammatory disease of the central nervous system. Susceptibility to the disease is affected by both environmental and genetic factors. Genetic factors include haplotypes in the histocompatibility complex (MHC) and over 50 non-MHC loci reported by genome-wide association studies. Amongst these, we previously reported polymorphisms in chromosome 12q13-14 with a protective effect in individuals of European descent. This locus spans 288 kb and contains 17 genes, including several candidate genes which have potentially significant pathogenic and therapeutic implications. In this study, we aimed to fine-map this locus. We have implemented a two-phase study: a variant discovery phase where we have used next-generation sequencing and two target-enrichment strategies [long-range polymerase chain reaction (PCR) and Nimblegen's solution phase hybridization capture] in pools of 25 samples; and a genotyping phase where we genotyped 712 variants in 3577 healthy controls and 3269 MS patients. This study confirmed the association (rs2069502, P = 9.9 × 10−11, OR = 0.787) and narrowed down the locus of association to an 86.5 kb region. Although the study was unable to pinpoint the key-associated variant, we have identified a 42 (genotyped and imputed) single-nucleotide polymorphism haplotype block likely to harbour the causal variant. No evidence of association at previously reported low-frequency variants in CYP27B1 was observed. As part of the study we compared variant discovery performance using two target-enrichment strategies. We concluded that our pools enriched with Nimblegen's solution phase hybridization capture had better sensitivity to detect true variants than the pools enriched with long-range PCR, whilst specificity was better in the long-range PCR-enriched pools compared with solution phase hybridization capture enriched pools; this result has important implications for the design of future fine-mapping studies.

A novel multiplex PCR-RFLP method for simultaneous detection of the MTHFR 677 C > T, eNOS +894 G > T and - eNOS -786 T > C variants among Malaysian Malays

Background Hyperhomocysteinemia as a consequence of the MTHFR 677 C > T variant is associated with cardiovascular disease and stroke. Another factor that can potentially contribute to these disorders is a depleted nitric oxide level, which can be due to the presence of eNOS +894 G > T and eNOS −786 T > C variants that make an individual more susceptible to endothelial dysfunction. A number of genotyping methods have been developed to investigate these variants. However, simultaneous detection methods using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis are still lacking. In this study, a novel multiplex PCR-RFLP method for the simultaneous detection of MTHFR 677 C > T and eNOS +894 G > T and eNOS −786 T > C variants was developed. A total of 114 healthy Malay subjects were recruited. The MTHFR 677 C > T and eNOS +894 G > T and eNOS −786 T > C variants were genotyped using the novel multiplex PCR-RFLP and confirmed by DNA sequencing as well as snpBLAST. Allele frequencies of MTHFR 677 C > T and eNOS +894 G > T and eNOS −786 T > C were calculated using the Hardy Weinberg equation. Methods The 114 healthy volunteers were recruited for this study, and their DNA was extracted. Primer pair was designed using Primer 3 Software version 0.4.0 and validated against the BLAST database. The primer specificity, functionality and annealing temperature were tested using uniplex PCR methods that were later combined into a single multiplex PCR. Restriction Fragment Length Polymorphism (RFLP) was performed in three separate tubes followed by agarose gel electrophoresis. PCR product residual was purified and sent for DNA sequencing. Results The allele frequencies for MTHFR 677 C > T were 0.89 (C allele) and 0.11 (T allele); for eNOS +894 G > T, the allele frequencies were 0.58 (G allele) and 0.43 (T allele); and for eNOS −786 T > C, the allele frequencies were 0.87 (T allele) and 0.13 (C allele). Conclusions Our PCR-RFLP method is a simple, cost-effective and time-saving method. It can be used to successfully genotype subjects for the MTHFR 677 C > T and eNOS +894 G > T and eNOS −786 T > C variants simultaneously with 100% concordance from DNA sequencing data. This method can be routinely used for rapid investigation of the MTHFR 677 C > T and eNOS +894 G > T and eNOS −786 T > C variants.

Investigation of two Wnt signalling pathway single nucleotide polymorphisms in a breast cancer-affected Australian population

In the mammary gland, Wnt signals are strongly implicated in initial development of the mammary rudiments and in the ductal branching and alveolar morphogenesis that occurs during pregnancy. Previously, we identified two Wnt signaling pathway-implicated genes, PPP3CA and MARK4, as having a role in more aggressive and potentially metastatic breast tumors. In this study, we examined two SNPs within PPP3CA and MARK4 in an Australian case-control study population for a potential role in human breast cancers. 182 cases and 180 controls were successfully genotyped for the PPP3CA SNP (rs2850328) and 182 cases and 177 controls were successfully genotyped for the MARK4 SNP (rs2395) using High Resolution Melt (HRM) analysis. Genotypes of randomly selected samples for both SNPs were validated by dye terminator sequencing. Chi-square tests were performed to determine any significant differences in the genotype and allele frequencies between the cases and controls. Chi-square analysis showed no statistically significant difference (p > .05) for genotype frequencies between cases and controls for rs2850328 (χ2 = 1.2, p = .5476) or rs2395 (χ2 = .3, p = .8608). Similarly, no statistical difference was observed for allele frequencies for rs2850328 (χ2 = .68, p = .4108) or rs2395 (χ2 = .02, p = .893). Even though an association of the polymorphisms rs2850328 and rs2395 and breast cancer was not detected in our case-control study population, other variants within the PPP3CA and MARK4 genes may still be associated with breast cancer, as both genes are implicated with processes involved in the disease as well as their mutual partaking in the Wnt signaling pathway.

Single nucleotide polymorphism in hsa-mir-196a-2 and breast cancer risk : a case control study

microRNAs are small, non-coding RNAs that influence gene expression on a post-transcriptional level. They participate in diverse biological pathways and may act as either tumor suppressor genes or oncogenes. As they may have an effect on thousands of target mRNAs, single-nucleotide polymorphisms in microRNA genes might have major functional consequences, because the microRNA's properties and/or maturation may change. miR-196a has been reported to be aberrantly expressed in breast cancer tissue. Additionally, the SNP rs11614913 in hsa-mir-196a-2 has been found to be associated with breast cancer risk in some studies although not in others. This study evaluated the association between rs11614913 and breast cancer risk in a Caucasian case-control cohort in Queensland, Australia. Results do not support an association of the tested hsa-mir-196a-2 polymorphism with breast cancer susceptibility in this cohort. As there is a discrepancy between our results and previous findings, it is important to assess the role of rs11614913 in breast cancer by further larger studies investigating different ethnic groups.

Single-nucleotide polymorphism alleles in the insulin receptor gene are associated with typical migraine

We have identified a migraine locus on chromosome 19p13.3/2 using linkage and association analysis. We isolated 48 single-nucleotide polymorphisms within the locus, of which we genotyped 24 in a Caucasian population comprising 827 unrelated cases and 765 controls. Five single-nucleotide polymorphisms within the insulin receptor gene showed significant association with migraine. This association was independently replicated in a case-control population collected separately. We used experiments with insulin receptor RNA and protein to investigate functionality for the migraine-associated single-nucleotide polymorphisms. We suggest possible functions for the insulin receptor in migraine pathogenesis.

Allelic variation at a single gene increases food value in a drought-tolerant staple cereal

The production of adequate agricultural outputs to support the growing human population places great demands on agriculture, especially in light of ever-greater restrictions on input resources. Sorghum is a drought-adapted cereal capable of reliable production where other cereals fail, and thus represents a good candidate to address food security as agricultural inputs of water and arable land grow scarce. A long-standing issue with sorghum grain is that it has an inherently lower digestibility. Here we show that a low-frequency allele type in the starch metabolic gene, pullulanase, is associated with increased digestibility, regardless of genotypic background. We also provide evidence that the beneficial allele type is not associated with deleterious pleiotropic effects in the modern field environment. We argue that increasing the digestibility of an adapted crop is a viable way forward towards addressing food security while maximizing water and land-use efficiency.

Measurement, modelling and capacity analysis for novel, fixed multi-user single-antenna MIMO-OFDM system, in rural environments

High-speed broadband internet access is widely recognised as a catalyst to social and economic development. However, the provision of broadband Internet services with the existing solutions to rural population, scattered over an extensive geographical area, remains both an economic and technical challenge. As a feasible solution, the Commonwealth Scientific and Industrial Research Organization (CSIRO) proposed a highly spectrally efficient, innovative and cost-effective fixed wireless broadband access technology, which uses analogue TV frequency spectrum and Multi-User MIMO (MUMIMO) technology with Orthogonal-Frequency-Division-Multiplexing (OFDM). MIMO systems have emerged as a promising solution for the increasing demand of higher data rates, better quality of service, and higher network capacity. However, the performance of MIMO systems can be significantly affected by different types of propagation environments e.g., indoor, outdoor urban, or outdoor rural and operating frequencies. For instance, large spectral efficiencies associated with MIMO systems, which assume a rich scattering environment in urban environments, may not be valid for all propagation environments, such as outdoor rural environments, due to the presence of less scatterer densities. Since this is the first time a MU-MIMO-OFDM fixed broadband wireless access solution is deployed in a rural environment, questions from both theoretical and practical standpoints arise; For example, what capacity gains are available for the proposed solution under realistic rural propagation conditions?. Currently, no comprehensive channel measurement and capacity analysis results are available for MU-MIMO-OFDM fixed broadband wireless access systems which employ large scale multiple antennas at the Access Point (AP) and analogue TV frequency spectrum in rural environments. Moreover, according to the literature, no deterministic MU-MIMO channel models exist that define rural wireless channels by accounting for terrain effects. This thesis fills the aforementioned knowledge gaps with channel measurements, channel modeling and comprehensive capacity analysis for MU-MIMO-OFDM fixed wireless broadband access systems in rural environments. For the first time, channel measurements were conducted in a rural farmland near Smithton, Tasmania using CSIRO's broadband wireless access solution. A novel deterministic MU-MIMO-OFDM channel model, which can be used for accurate performance prediction of rural MUMIMO channels with dominant Line-of-Sight (LoS) paths, was developed under this research. Results show that the proposed solution can achieve 43.7 bits/s/Hz at a Signal-to- Noise Ratio (SNR) of 20 dB in rural environments. Based on channel measurement results, this thesis verifies that the deterministic channel model accurately predicts channel capacity in rural environments with a Root Mean Square (RMS) error of 0.18 bits/s/Hz. Moreover, this study presents a comprehensive capacity analysis of rural MU-MIMOOFDM channels using experimental, simulated and theoretical models. Based on the validated deterministic model, further investigations on channel capacity and the eects of capacity variation, with different user distribution angles (θ) around the AP, were analysed. For instance, when SNR = 20dB, the capacity increases from 15.5 bits/s/Hz to 43.7 bits/s/Hz as θ increases from 10° to 360°. Strategies to mitigate these capacity degradation effects are also presented by employing a suitable user grouping method. Outcomes of this thesis have already been used by CSIRO scientists to determine optimum user distribution angles around the AP, and are of great significance for researchers and MU-MUMO-OFDM system developers to understand the advantages and potential capacity gains of MU-MIMO systems in rural environments. Also, results of this study are useful to further improve the performance of MU-MIMO-OFDM systems in rural environments. Ultimately, this knowledge contribution will be useful in delivering efficient, cost-effective high-speed wireless broadband systems that are tailor-made for rural environments, thus, improving the quality of life and economic prosperity of rural populations.

The association of single nucleotide polymorphisms with endometrial cancer risk and prognosis

Endometrial cancer is one of the most common female diseases in developed nations and is the most commonly diagnosed gynaecological cancer in Australia. The disease is commonly classified by histology: endometrioid or non-endometrioid endometrial cancer. While non-endometrioid endometrial cancers are accepted to be high-grade, aggressive cancers, endometrioid cancers (comprising 80% of all endometrial cancers diagnosed) generally carry a favourable patient prognosis. However, endometrioid endometrial cancer patients endure significant morbidity due to surgery and radiotherapy used for disease treatment, and patients with recurrent disease have a 5-year survival rate of less than 50%. Genetic analysis of women with endometrial cancer could uncover novel markers associated with disease risk and/or prognosis, which could then be used to identify women at high risk and for the use of specialised treatments. Proteases are widely accepted to play an important role in the development and progression of cancer. This PhD project hypothesised that SNPs from two protease gene families, the matrix metalloproteases (MMPs, including their tissue inhibitors, TIMPs) and the tissue kallikrein-related peptidases (KLKs) would be associated with endometrial cancer susceptibility and/or prognosis. In the first part of this study, optimisation of the genotyping techniques was performed. Results from previously published endometrial cancer genetic association studies were attempted to be validated in a large, multicentre replication set (maximum cases n = 2,888, controls n = 4,483, 3 studies). The rs11224561 progesterone receptor SNP (PGR, A/G) was observed to be associated with increased endometrial cancer risk (per A allele OR 1.31, 95% CI 1.12-1.53; p-trend = 0.001), a result which was initially reported among a Chinese sample set. Previously reported associations for the remaining 8 SNPs investigated for this section of the PhD study were not confirmed, thereby reinforcing the importance of validation of genetic association studies. To examine the effect of SNPs from the MMP and KLK families on endometrial cancer risk, we selected the most significantly associated MMP and KLK SNPs from genome-wide association study analysis (GWAS) to be genotyped in the GWAS replication set (cases n = 4,725, controls n = 9,803, 13 studies). The significance of the MMP24 rs932562 SNP was unchanged after incorporation of the stage 2 samples (Stage 1 per allele OR 1.18, p = 0.002; Combined Stage 1 and 2 OR 1.09, p = 0.002). The rs10426 SNP, located 3' to KLK10 was predicted by bioinformatic analysis to effect miRNA binding. This SNP was observed in the GWAS stage 1 result to exhibit a recessive effect on endometrial cancer risk, a result which was not validated in the stage 2 sample set (Stage 1 OR 1.44, p = 0.007; Combined Stage 1 and 2 OR 1.14, p = 0.08). Investigation of the regions imputed surrounding the MMP, TIMP and KLK genes did not reveal any significant targets for further analysis. Analysis of the case data from the endometrial cancer GWAS to identify genetic variation associated with cancer grade did not reveal SNPs from the MMP, TIMP or KLK genes to be statistically significant. However, the representation of SNPs from the MMP, TIMP and KLK families by the GWAS genotyping platform used in this PhD project was examined and observed to be very low, with the genetic variation of four genes (MMP23A, MMP23B, MMP28 and TIMP1) not captured at all by this technique. This suggests that comprehensive candidate gene association studies will be required to assess the role of SNPs from these genes with endometrial cancer risk and prognosis. Meta-analysis of gene expression microarray datasets curated as part of this PhD study identified a number of MMP, TIMP and KLK genes to display differential expression by endometrial cancer status (MMP2, MMP10, MMP11, MMP13, MMP19, MMP25 and KLK1) and histology (MMP2, MMP11, MMP12, MMP26, MMP28, TIMP2, TIMP3, KLK6, KLK7, KLK11 and KLK12). In light of these findings these genes should be prioritised for future targeted genetic association studies. Two SNPs located 43.5 Mb apart on chromosome 15 were observed from the GWAS analysis to be associated with increased endometrial cancer grade, results that were validated in silico in two independent datasets. One of these SNPs, rs8035725 is located in the 5' untranslated region of a MYC promoter binding protein DENND4A (Stage 1 OR 1.15, p = 9.85 x 10P -5 P, combined Stage 1 and in silico validation OR 1.13, p = 5.24 x 10P -6 P). This SNP has previously been reported to alter the expression of PTPLAD1, a gene involved in the synthesis of very long fatty acid chains and in the Rac1 signaling pathway. Meta-analysis of gene expression microarray data found PTPLAD1 to display increased expression in the aggressive non-endometrioid histology compared with endometrioid endometrial cancer, suggesting that the causal SNP underlying the observed genetic association may influence expression of this gene. Neither rs8035725 nor significant SNPs identified by imputation were predicted bioinformatically to affect transcription factor binding sites, indicating that further studies are required to assess their potential effect on other regulatory elements. The other grade- associated SNP, rs6606792, is located upstream of an inferred pseudogene, ELMO2P1 (Stage 1 OR 1.12, p = 5 x 10P -5 P; combined Stage 1 and in silico validation OR 1.09, p = 3.56 x 10P -5 P). Imputation of the ±1 Mb region surrounding this SNP revealed a cluster of significantly associated variants which are predicted to abolish various transcription factor binding sites, and would be expected to decrease gene expression. ELMO2P1 was not included on the microarray platforms collected for this PhD, and so its expression could not be investigated. However, the high sequence homology of ELMO2P1 with ELMO2, a gene important to cell motility, indicates that ELMO2 could be the parent gene for ELMO2P1 and as such, ELMO2P1 could function to regulate the expression of ELMO2. Increased expression of ELMO2 was seen to be associated with increasing endometrial cancer grade, as well as with aggressive endometrial cancer histological subtypes by microarray meta-analysis. Thus, it is hypothesised that SNPs in linkage disequilibrium with rs6606792 decrease the transcription of ELMO2P1, reducing the regulatory effect of ELMO2P1 on ELMO2 expression. Consequently, ELMO2 expression is increased, cell motility is enhanced leading to an aggressive endometrial cancer phenotype. In summary, these findings have identified several areas of research for further study. The results presented in this thesis provide evidence that a SNP in PGR is associated with risk of developing endometrial cancer. This PhD study also reports two independent loci on chromosome 15 to be associated with increased endometrial cancer grade, and furthermore, genes associated with these SNPs to be differentially expressed according in aggressive subtypes and/or by grade. The studies reported in this thesis support the need for comprehensive SNP association studies on prioritised MMP, TIMP and KLK genes in large sample sets. Until these studies are performed, the role of MMP, TIMP and KLK genetic variation remains unclear. Overall, this PhD study has contributed to the understanding of genetic variation involvement in endometrial cancer susceptibility and prognosis. Importantly, the genetic regions highlighted in this study could lead to the identification of novel gene targets to better understand the biology of endometrial cancer and also aid in the development of therapeutics directed at treating this disease.

Building an augmented map for road risk assessment

Recent road safety statistics show that the decades-long fatalities decreasing trend is stopping and stagnating. Statistics further show that crashes are mostly driven by human error, compared to other factors such as environmental conditions and mechanical defects. Within human error, the dominant error source is perceptive errors, which represent about 50% of the total. The next two sources are interpretation and evaluation, which accounts together with perception for more than 75% of human error related crashes. Those statistics show that allowing drivers to perceive and understand their environment better, or supplement them when they are clearly at fault, is a solution to a good assessment of road risk, and, as a consequence, further decreasing fatalities. To answer this problem, currently deployed driving assistance systems combine more and more information from diverse sources (sensors) to enhance the driver's perception of their environment. However, because of inherent limitations in range and field of view, these systems' perception of their environment remains largely limited to a small interest zone around a single vehicle. Such limitations can be overcomed by increasing the interest zone through a cooperative process. Cooperative Systems (CS), a specific subset of Intelligent Transportation Systems (ITS), aim at compensating for local systems' limitations by associating embedded information technology and intervehicular communication technology (IVC). With CS, information sources are not limited to a single vehicle anymore. From this distribution arises the concept of extended or augmented perception. Augmented perception allows extending an actor's perceptive horizon beyond its "natural" limits not only by fusing information from multiple in-vehicle sensors but also information obtained from remote sensors. The end result of an augmented perception and data fusion chain is known as an augmented map. It is a repository where any relevant information about objects in the environment, and the environment itself, can be stored in a layered architecture. This thesis aims at demonstrating that augmented perception has better performance than noncooperative approaches, and that it can be used to successfully identify road risk. We found it was necessary to evaluate the performance of augmented perception, in order to obtain a better knowledge on their limitations. Indeed, while many promising results have already been obtained, the feasibility of building an augmented map from exchanged local perception information and, then, using this information beneficially for road users, has not been thoroughly assessed yet. The limitations of augmented perception, and underlying technologies, have not be thoroughly assessed yet. Most notably, many questions remain unanswered as to the IVC performance and their ability to deliver appropriate quality of service to support life-saving critical systems. This is especially true as the road environment is a complex, highly variable setting where many sources of imperfections and errors exist, not only limited to IVC. We provide at first a discussion on these limitations and a performance model built to incorporate them, created from empirical data collected on test tracks. Our results are more pessimistic than existing literature, suggesting IVC limitations have been underestimated. Then, we develop a new CS-applications simulation architecture. This architecture is used to obtain new results on the safety benefits of a cooperative safety application (EEBL), and then to support further study on augmented perception. At first, we confirm earlier results in terms of crashes numbers decrease, but raise doubts on benefits in terms of crashes' severity. In the next step, we implement an augmented perception architecture tasked with creating an augmented map. Our approach is aimed at providing a generalist architecture that can use many different types of sensors to create the map, and which is not limited to any specific application. The data association problem is tackled with an MHT approach based on the Belief Theory. Then, augmented and single-vehicle perceptions are compared in a reference driving scenario for risk assessment,taking into account the IVC limitations obtained earlier; we show their impact on the augmented map's performance. Our results show that augmented perception performs better than non-cooperative approaches, allowing to almost tripling the advance warning time before a crash. IVC limitations appear to have no significant effect on the previous performance, although this might be valid only for our specific scenario. Eventually, we propose a new approach using augmented perception to identify road risk through a surrogate: near-miss events. A CS-based approach is designed and validated to detect near-miss events, and then compared to a non-cooperative approach based on vehicles equiped with local sensors only. The cooperative approach shows a significant improvement in the number of events that can be detected, especially at the higher rates of system's deployment.

Saliva-derived DNA performs well in large-scale, high-density single-nucleotide polymorphism microarray studies

As of June 2009, 361 genome-wide association studies (GWAS) had been referenced by the HuGE database. GWAS require DNA from many thousands of individuals, relying on suitable DNA collections. We recently performed a multiple sclerosis (MS) GWAS where a substantial component of the cases (24%) had DNA derived from saliva. Genotyping was done on the Illumina genotyping platform using the Infinium Hap370CNV DUO microarray. Additionally, we genotyped 10 individuals in duplicate using both saliva- and blood-derived DNA. The performance of blood- versus saliva-derived DNA was compared using genotyping call rate, which reflects both the quantity and quality of genotyping per sample and the “GCScore,” an Illumina genotyping quality score, which is a measure of DNA quality. We also compared genotype calls and GCScores for the 10 sample pairs. Call rates were assessed for each sample individually. For the GWAS samples, we compared data according to source of DNA and center of origin. We observed high concordance in genotyping quality and quantity between the paired samples and minimal loss of quality and quantity of DNA in the saliva samples in the large GWAS sample, with the blood samples showing greater variation between centers of origin. This large data set highlights the usefulness of saliva DNA for genotyping, especially in high-density single-nucleotide polymorphism microarray studies such as GWAS.