Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated with 65 genetic syndromes. We demonstrate increasing resolution and specificity ranging from protein complex, gene, sub-gene, protein domain, and even single nucleotide-level Mendelian episignatures. We show the power of multiclass modeling to develop highly accurate and disease-specific diagnostic classifiers. This study significantly expands the number and spectrum of disorders with detectable DNA methylation episignatures, improves the clinical diagnostic capabilities through the resolution of unsolved cases and the reclassification of variants of unknown clinical significance, and provides further insight into the molecular etiology of Mendelian conditions

High Resolution COSMO - SkyMed SAR Images for Oil Spills Automatic Detection

In recent decades SAR images have extensively been used for the observation and the characterization of the sea surface. A number of experiments have been carried out with airborne and spaceborne sensors. These show SAR's ability of detecting oil slicks and distinguishing them from similar oceanic features. A great amount of archived data is available in many spectral bands. In spite of this, nowadays C-band is the most widely used for the observation of the sea from a satellite. For this reason, in the last year we have developed OSAD (Oil Spill Automatic Detector), a system focusing on C-band. The availability of high resolution X-band images (supplied by COSMO-SkyMed satellites and managed by the Italian Space Agency) has encouraged further investigation aimed at extending the scope of this methodology to X band images with the final goal of employing it for detecting oil spills. X-SAR data (obtained from airplane multi-band experiments and from SIR-C X-SAR mission carried out by NASA's space shuttle in 1994) are analyzed in order to compare SAR images in different bands and spot locations contaminated by an oil slick. The COSMO-SkyMed constellation (supplying high spatial and temporal coverage of the Mediterranean basin) makes it possible to develop an operational oil spill survey system, particularly in protected areas and areas close to the coast

Monitoring river pollution with high-resolution satellite images

The Bormida river basin is a strongly polluted rural area in North West Italy. The contamination has been caused by a chemical plant operating locally from 1892 to 1997 with ensuing heavy consequences on agriculture, animal life and human health. In the last few years, there has been an attempt to remove hazardous waste and improve the conditions of the site. We have employed a method based on high-resolution visible and infrared satellite images, which is able to assess the environmental impact of water contamination, with the aim of monitoring river banks. This method quantifies the Normalised Difference Vegetation Index (NDVI) on crops located close to the river using remote-sensed data. In this way it is possible to assess the spatial and temporal progression of land contamination and thus to be able to have an understanding of how much the interventions aimed at improving the situation were effective. The results obtained show that it is possible to assess the influence of water pollution along the entire valley: consequences are clearly visible up to 60 km downstream because of the great amounts of pollutants having been discharged. This method has been tested using Quickbird imagery (spatial resolution similar to 2.4 m/pixel) and has been validated comparing the results with chemical measurements

Accuracy of wind field deduced from Envisat WSM SAR images along range

Since several years the Synthetic Aperture Radar (SAR) is used as a reliable tool for sea surface observation. SAR provides information about the sea surface roughness generated by wind. In order to extract wind field from SAR images the direction and the intensity of the wind vector must be considered separately. Particularly the well-established methods for determining the wind intensity required the wind direction as input. We analysed the Envisat WSM images: the wind direction has been deduced applying the Continuous Wavelet Transform (CWT) analysis to the periodic structures of the image. The obtained direction has been used as input of the CMOD5 model to calculate the intensity. The large swath width of an Envisat WSM image corresponds to incidence angles ranging from 15 to 45, involving specular and Bragg scatter mechanisms; the Normalised Radar Cross Section (NRCS) depends on the position along the range, on the wind intensity as well as on the angle between the radar beam and the wind direction. Here we present an analysis concerning the accuracy of the wind field deduced from Envisat WSM SAR images as a function of the position along the range. We have compared the data obtained in different position along the range, of about 100 images, with external data of wind. The accuracy of the outputs of the wind as a function of the different zones of the range are presented and the backscatter mechanisms and sensitivity concerning NRCS are discussed

Coastal monitoring with high resolution Synthetic Aperture Radar

Coastal areas are dynamic zones affected by natural change and human use: they contain rich resources to produce goods and services and are home to most commercial and industrial activities, as well as fragile and valuable ecosystems. A continuous monitoring activity is essential to prevent environmental threats that can be very dangerous for such a sensitive ecosystem. Satellite-borne sensors are valuable tools for this purpose, particularly the Synthetic Aperture Radar (SAR), which is able to operate by day and night in any weather conditions. In the past, the limited revisit time was the main drawback of SARs, because of the small number of operating sensors. In the past year several new satellites have been launched, with acquisition modes characterised by large swaths; now a daily revisit is possible for high and mid-latitude areas included between the tropic and the Arctic Circle. Moreover, spatial resolutions available from new sensors are so high (up to 1 meter per pixel) that it is now possible to observe details in close proximity of coastal zones. We present a monitoring system under development, based on multi-sensor SAR from which we extract marine features such as high resolution wind and wave fields and sea surface pollution. Methodologies and operational exempla are described. The system is primarily designed for monitoring activities at regional and local scales. Focusing on a particular area, it is possible to gather and integrate all available data for a comprehensive observation and management of both routine and emergency events