A full pedigree based method for the statistical assessment of genetic anticipation

Genetic anticipation is defined as a decrease in age of onset or increase in severity as the disorder is transmitted through subsequent generations. Anticipation has been noted in the literature for over a century. Recently, anticipation in several diseases including Huntington's Disease, Myotonic Dystrophy and Fragile X Syndrome were shown to be caused by expansion of triplet repeats. Anticipation effects have also been observed in numerous mental disorders (e.g. Schizophrenia, Bipolar Disorder), cancers (Li-Fraumeni Syndrome, Leukemia) and other complex diseases. ^ Several statistical methods have been applied to determine whether anticipation is a true phenomenon in a particular disorder, including standard statistical tests and newly developed affected parent/affected child pair methods. These methods have been shown to be inappropriate for assessing anticipation for a variety of reasons, including familial correlation and low power. Therefore, we have developed family-based likelihood modeling approaches to model the underlying transmission of the disease gene and penetrance function and hence detect anticipation. These methods can be applied in extended families, thus improving the power to detect anticipation compared with existing methods based only upon parents and children. The first method we have proposed is based on the regressive logistic hazard model. This approach models anticipation by a generational covariate. The second method allows alleles to mutate as they are transmitted from parents to offspring and is appropriate for modeling the known triplet repeat diseases in which the disease alleles can become more deleterious as they are transmitted across generations. ^ To evaluate the new methods, we performed extensive simulation studies for data simulated under different conditions to evaluate the effectiveness of the algorithms to detect genetic anticipation. Results from analysis by the first method yielded empirical power greater than 87% based on the 5% type I error critical value identified in each simulation depending on the method of data generation and current age criteria. Analysis by the second method was not possible due to the current formulation of the software. The application of this method to Huntington's Disease and Li-Fraumeni Syndrome data sets revealed evidence for a generation effect in both cases. ^

Diatom abundances of ODP Hole 177-1093A in the Southern Ocean

Laminated diatom ooze samples collected during ODP Leg 177 were analysed using scanning electron microscope (SEM) and optical microscopy to test their potential as high-resolution records of Polar Front hydrography, surface production, and export. SEM analysis from two intervals, marine isotope stage (MIS) 29 and 12/11, respectively, recovered from 50°S in the Atlantic Ocean (ODP Site 1093, Hole A, sections 13H-4 0-18 cm and 23H-4 0-22 cm), show abundant and well-preserved Thalassiothrix antarctica mats, thought to be indicative of rapid export from the surface and deposition in the sediment. A preliminary analysis of laminae succession points to a possible annual couplet/triplet succession of laminae, and suggests exceptionally high local sedimentation rates of 57 and 80 cm/kyr for MIS 12/11 and 29, respectively. Such high accumulation rates imply that local export from the surface layer and sequestration of biogenic silica and organic matter to the sediments may have been much higher than previously suggested.

Physical oceanography from eight Seaglider missions in the Mediterranean Sea, Eastern Basin

In 2008, the Oceanography Center at the University of Cyprus acquired two underwater gliders in the framework of a nationally-managed infrastructure upgrade program. The gliders were purchased from the Seaglider Fabrication Center at the University of Washington. Both gliders are rated to 1000 m and carry a typical sensor payload: non-pumped conductivity-temperature-depth sensors (CTD), a dissolved oxygen sensor, an optical triplet to measure optical backscatter at 400 nm, 700 nm, and chlorophyll-a fluorescence. Since March of 2009, the gliders have been used in a long-term observing program of the Cypriot EEZ, and by September 2015, have covered more than 15300 km over ground and 3500 dive cycles in 940 glider days. Butterfly patterns have been flown in two configurations, either on the western or eastern side of the EEZ south of Cyprus. The glider endurance lines criss-cross the region in order to more accurately locate and investigate the mesoscale structures south of Cyprus, and in particular the Cyprus eddy which is often the dominant feature. Based on the near real time observations, the glider mission was sometimes altered in order to more fully sample the Cyprus eddy, or to locate its center or extent. A summary of the raw and processed data collected, and the quality control procedures are presented, in order for future users to take advantage of this unique data set.

How does firm heterogeneity information impact the estimation of embodied carbon emissions in Chinese exports?

Using an augmented Chinese input–output table in which information about firm ownership and type of traded goods are explicitly reported, we show that ignoring firm heterogeneity causes embodied CO2 emissions in Chinese exports to be overestimated by 20% at the national level, with huge differences at the sector level, for 2007. This is because different types of firm that are allocated to the same sector of the conventional Chinese input–output table vary greatly in terms of market share, production technology and carbon intensity. This overestimation of export-related carbon emissions would be even higher if it were not for the fact that 80% of CO2 emissions embodied in exports of foreign-owned firms are, in fact, emitted by Chinese-owned firms upstream of the supply chain. The main reason is that the largest CO2 emitter, the electricity sector located upstream in Chinese domestic supply chains, is strongly dominated by Chinese-owned firms with very high carbon intensity.

Optimizing Bottom Subcells for III-V-on-Si MultiJunction Solar Cells

Dual-junction solar cells formed by a GaAsP or GaInP top cell and a silicon bottom cell seem to be attractive candidates to materialize the long sought-for integration of III-V materials on silicon for photovoltaic applications. Such integration would offer a cost breakthrough for photovoltaic technology, unifying the low cost of silicon and the efficiency potential of III-V multijunction solar cells. In this study, we analyze several factors influencing the performance of the bottom subcell of this dual-junction, namely, 1) the formation of the emitter as a result of the phosphorus diffusion that takes place during the prenucleation temperature ramp and during the growth of the III-V layers; 2) the degradation in surface morphology during diffusion; and 3) the quality needed for the passivation provided by the GaP layer on the emitter.

Dissolution and gettering of iron during contact co-firing

The dissolution and gettering of iron is studied during the final fabrication step of multicrystalline silicon solar cells, the co-firing step, through simulations and experiments. The post-processed interstitial iron concentration is simulated according to the as-grown concentration and distribution of iron within a silicon wafer, both in the presence and absence of the phosphorus emitter, and applying different time-temperature profiles for the firing step. The competing effects of dissolution and gettering during the short annealing process are found to be strongly dependant on the as-grown material quality. Furthermore, increasing the temperature of the firing process leads to a higher dissolution of iron, hardly compensated by the higher diffusivity of impurities. A new defect engineering tool is introduced, the extended co-firing, which could allow an enhanced gettering effect within a small additional time

First results obtained using the CENBG nanobeam line: performances and applications

A high resolution focused beam line has been recently installed on the AIFIRA (“Applications Interdisciplinaires des Faisceaux d’Ions en Région Aquitaine”) facility at CENBG. This nanobeam line, based on a doublet–triplet configuration of Oxford Microbeam Ltd. OM-50™ quadrupoles, offers the opportunity to focus protons, deuterons and alpha particles in the MeV energy range to a sub-micrometer beam spot. The beam optics design has been studied in detail and optimized using detailed ray-tracing simulations and the full mechanical design of the beam line was reported in the Debrecen ICNMTA conference in 2008. During the last two years, the lenses have been carefully aligned and the target chamber has been fully equipped with particle and X-ray detectors, microscopes and precise positioning stages. The beam line is now operational and has been used for its firstapplications to ion beam analysis. Interestingly, this set-up turned out to be a very versatile tool for a wide range of applications. Indeed, even if it was not intended during the design phase, the ion optics configuration offers the opportunity to work either with a high current microbeam (using the triplet only) or with a lower current beam presenting a sub-micrometer resolution (using the doublet–triplet configuration). The performances of the CENBGnanobeam line are presented for both configurations. Quantitative data concerning the beam lateral resolutions at different beam currents are provided. Finally, the firstresults obtained for different types of application are shown, including nuclear reaction analysis at the micrometer scale and the firstresults on biological samples

Influence of laser wavelength on Laser-Fired contacts for crystalline silicon solar cells

In the Laser-Fired Contact (LFC) process, a laser beam fires a metallic layer through a dielectric passivating layer into the silicon wafer to form an electrical contact with the silicon bulk [1]. This laser technique is an interesting alternative for the fabrication of both laboratory and industrial scale high efficiency passivated emitter and rear cell (PERC). One of the principal characteristics of this promising technique is the capability to reduce the recombination losses at the rear surface in crystalline silicon solar cells. Therefore, it is crucial to optimize LFC because this process is one of the most promising concepts to produce rear side point contacts at process speeds compatible with the final industrial application. In that sense, this work investigates the optimization of LFC processing to improve the back contact in silicon solar cells using fully commercial solid state lasers with pulse width in the ns range, thus studying the influence of the wavelength using the three first harmonics (corresponding to wavelengths of 1064 nm, 532 nm and 355 nm). Previous studies of our group focused their attention in other processing parameters as laser fluence, number of pulses, passivating material [2, 3] thickness of the rear metallic contact [4], etc. In addition, the present work completes the parametric optimization by assessing the influence of the laser wavelength on the contact property. In particular we report results on the morphology and electrical behaviour of samples specifically designed to assess the quality of the process. In order to study the influence of the laser wavelength on the contact feature we used as figure of merit the specific contact resistance. In all processes the best results have been obtained using green (532 nm) and UV (355 nm), with excellent values for this magnitude far below 1 mΩcm2.

Impact of MOVPE Environment on Silicon Substrates for III-V-on-Si Multijunction Solar Cells

With the final goal of integrating III-V materials to silicon for tandem solar cells, the influence of the metal-organic vapor phase epitaxy (MOVPE) environment on the minority carrier properties of silicon wafers has been evaluated. These properties will essentially determine the photovoltaic performance of the bottom cell in a III-V-on-Si tandem solar cell device. A comparison of the base minority carrier lifetimes obtained for different thermal processes carried out in a MOVPE reactor on Czochralski silicon wafers has been carried out. The effect of the formation of the emitter by phosphorus diffusion has also been evaluated.

Understanding phosphorus diffusion into silicon in a MOVPE environment for III-V on silicon solar cells

Dual-junction solar cells formed by a GaAsP or GaInP top cell and a silicon bottom cell seem to be attractive candidates to materialize the long sought-for integration of III?V materials on silicon for photovoltaic applications. When manufacturing a multi-junction solar cell on silicon, one of the first processes to be addressed is the development of the bottom subcell and, in particular, the formation of its emitter. In this study, we analyze, both experimentally and by simulations, the formation of the emitter as a result of phosphorus diffusion that takes place during the first stages of the epitaxial growth of the solar cell. Different conditions for the Metal-Organic Vapor Phase Epitaxy (MOVPE) process have been evaluated to understand the impact of each parameter, namely, temperature, phosphine partial pressure, time exposure and memory effects in the final diffusion profiles obtained. A model based on SSupremIV process simulator has been developed and validated against experimental profiles measured by ECV and SIMS to calculate P diffusion profiles in silicon formed in a MOVPE environment taking in consideration all these factors.

Application of active heat pulse method with fiber optic temperature sensing for estimation of wetting bulbs and water distribution in drip emitters.

Through the use of the Distributed Fiber Optic Temperature Measurement (DFOT) method, it is possible to measure the temperature in small intervals (on the order of centimeters) for long distances (on the order of kilometers) with a high temporal frequency and great accuracy. The heat pulse method consists of applying a known amount of heat to the soil and monitoring the temperature evolution, which is primarily dependent on the soil moisture content. The use of both methods, which is called the active heat pulse method with fiber optic temperature sensing (AHFO), allows accurate soil moisture content measurements. In order to experimentally study the wetting patterns, i.e. shape, size, and the water distribution, from a drip irrigation emitter, a soil column of 0.5 m of diameter and 0.6 m high was built. Inside the column, a fiber optic cable with a stainless steel sheath was placed forming three concentric helixes of diameters 0.2 m, 0.4 m and 0.6 m, leading to a 148 measurement point network. Before, during, and after the irrigation event, heat pulses were performed supplying electrical power of 20 W/m to the steel. The soil moisture content was measured with a capacitive sensor in one location at depths of 0.1 m, 0.2 m, 0.3 m and 0.4 m during the irrigation. It was also determined by the gravimetric method in several locations and depths before and right after the irrigation. The emitter bulb dimensions and shape evolution was satisfactorily measured during infiltration. Furthermore, some bulb's characteristics difficult to predict (e.g. preferential flow) were detected. The results point out that the AHFO is a useful tool to estimate the wetting pattern of drip irrigation emitters in soil columns and show a high potential for its use in the field.

Fracture strength of drilled wafers: study of the stress concentration factor and determination of the weibull distribution of the fracture stress

In the photovoltaic field, the back contact solar cells technology has appeared as an alternative to the traditional silicon modules. This new type of cells places both positive and negative contacts on the back side of the cells maximizing the exposed surface to the light and making easier the interconnection of the cells in the module. The Emitter Wrap-Through solar cell structure presents thousands of tiny holes to wrap the emitter from the front surface to the rear surface. These holes are made in a first step over the silicon wafers by means of a laser drilling process. This step is quite harmful from a mechanical point of view since holes act as stress concentrators leading to a reduction in the strength of these wafers. This paper presents the results of the strength characterization of drilled wafers. The study is carried out testing the samples with the ring on ring device. Finite Element models are developed to simulate the tests. The stress concentration factor of the drilled wafers under this load conditions is determined from the FE analysis. Moreover, the material strength is characterized fitting the fracture stress of the samples to a three-parameter Weibull cumulative distribution function. The parameters obtained are compared with the ones obtained in the analysis of a set of samples without holes to validate the method employed for the study of the strength of silicon drilled wafers.

Optimization of the silicon subcell for III-V on silicon multijunction solar cells: key differences with conventional silicon technology

Dual-junction solar cells formed by a GaAsP or GaInP top cell and a silicon (Si) bottom cell seem to be attractive candidates to materialize the long sought-for integration of III-V materials on Si for photovoltaic (PV) applications. Such integration would offer a cost breakthrough for PV technology, unifying the low cost of Si and the efficiency potential of III-V multijunction solar cells. The optimization of the Si solar cells properties in flat-plate PV technology is well-known; nevertheless, it has been proven that the behavior of Si substrates is different when processed in an MOVPE reactor In this study, we analyze several factors influencing the bottom subcell performance, namely, 1) the emitter formation as a result of phosphorus diffusion; 2) the passivation quality provided by the GaP nucleation layer; and 3) the process impact on the bottom subcell PV properties.

Sonar bat for visually impaired people

Visually impaired people have many difficulties when traveling because it is impossible for them to detect obstacles that stand in their way. Bats instead of using the sight to detect these obstacles use a method based on ultrasounds, as their sense of hearing is much more developed than that of sight. The aim of the project is to design and build a device based on the method used by the bats to detect obstacles and transmit this information to people with vision problems to improve their skills. The method involves sending ultrasonic waves and analyzing the echoes produced when these waves collide with an obstacle. The sent signals are pulses and the information needed is the time elapsed from we send a pulse to receive the echo produced. The speed of sound is fixed within the same environment, so measuring the time it takes the wave to make the return trip, we can easily know the distance where the object is located. To build the device we have to design the necessary circuits, fabricate printed circuit boards and mount the components. We also have to design a program that would work within the digital part, which will be responsible for performing distance calculations and generate the signals with the information for the user. The circuits are the emitter and the receiver. The transmitter circuit is responsible for generating the signals that we will use. We use an ultrasonic transmitter which operates at 40 kHz so the sent pulses have to be modulated with this frequency. For this we generate a 40 kHz wave with an astable multivibrator formed by NAND gates and a train of pulses with a timer. The signal is the product of these two signals. The circuit of the receiver is a signal conditioner which transforms the signals received by the ultrasonic receiver in square pulses. The received signals have a 40 kHz carrier, low voltage and very different shapes. In the signal conditioner we will amplify the voltage to appropriate levels, eliminate the component of 40 kHz and make the shape of the pulses square to use them digitally. To simplify the design and manufacturing process in the digital part of the device we will use the Arduino platform. The pulses sent and received echoes enter through input pins with suitable voltage levels. In the Arduino, our program will poll these two signals storing the time when a pulse occurs. These time values are analyzed and used to generate an audible signal with the user information. This information is stored in the frequency of the signal, so that the generated signal frequency varies depending on the distance at which the objects are. RESUMEN Las personas con discapacidad visual tienen muchas dificultades a la hora de desplazarse ya que les es imposible poder detectar los obstáculos que se interpongan en su camino. Los murciélagos en vez de usar la vista para detectar estos obstáculos utilizan un método basado en ultrasonidos, ya que su sentido del oído está mucho más desarrollado que el de la vista. El objetivo del proyecto es diseñar y construir un dispositivo basado en el método usado por los murciélagos para detectar obstáculos y que pueda ser usado por las personas con problemas en la vista para mejorar sus capacidades. El método utilizado consiste en enviar ondas de ultrasonidos y analizar el eco producido cuando estas ondas chocan con algún obstáculo. Las señales enviadas tendrán forma de pulsos y la información necesaria es el tiempo transcurrido entre que enviamos un pulso y recibimos el eco producido. La velocidad del sonido es fija dentro de un mismo entorno, por lo que midiendo el tiempo que tarda la onda en hacer el viaje de ida y vuelta podemos fácilmente conocer la distancia a la que se encuentra el objeto. Para construir el dispositivo tendremos que diseñar los circuitos necesarios, fabricar las placas de circuito impreso y montar los componentes. También deberemos diseñar el programa que funcionara dentro de la parte digital, que será el encargado de realizar los cálculos de la distancia y de generar las señales con la información para el usuario. Los circuitos diseñados corresponden uno al emisor y otro al receptor. El circuito emisor es el encargado de generar las señales que vamos a emitir. Vamos a usar un emisor de ultrasonidos que funciona a 40 kHz por lo que los pulsos que enviemos van a tener que estar modulados con esta frecuencia. Para ello generamos una onda de 40 kHz mediante un multivibrador aestable formado por puertas NAND y un tren de pulsos con un timer. La señal enviada es el producto de estas dos señales. El circuito de la parte del receptor es un acondicionador de señal que transforma las señales recibidas por el receptor de ultrasonidos en pulsos cuadrados. Las señales recibidas tienen una portadora de 40 kHz para poder usarlas con el receptor de ultrasonidos, bajo voltaje y formas muy diversas. En el acondicionador de señal amplificaremos el voltaje a niveles adecuados además de eliminar la componente de 40 kHz y conseguir pulsos cuadrados que podamos usar de forma digital. Para simplificar el proceso de diseño y fabricación en la parte digital del dispositivo usaremos la plataforma Arduino. Las señales correspondientes el envío de los pulsos y a la recepción de los ecos entraran por pines de entrada después de haber adaptado los niveles de voltaje. En el Arduino, nuestro programa sondeara estas dos señales almacenando el tiempo en el que se produce un pulso. Estos valores de tiempo se analizan y se usan para generar una señal audible con la información para el usuario. Esta información ira almacenada en la frecuencia de la señal, por lo que la señal generada variará su frecuencia en función de la distancia a la que se encuentren los objetos.

Digital chaos synchronization in optical networks

A new method to obtain digital chaos synchronization between two systems is reported. It is based on the use of Optically Programmable Logic Cells as chaos generators. When these cells are feedbacked, periodic and chaotic behaviours are obtained. They depend on the ratio between internal and external delay times. Chaos synchronization is obtained if a common driving signal feeds both systems. A control to impose the same boundary conditions to both systems is added to the emitter. New techniques to analyse digital chaos are presented. The main application of these structures is to obtain secure communications in optical networks.