386 research outputs found

    Introductory Chapter: Kinetics from Past to Future

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    Introductory Chapter: Granularity in Adsorption

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    Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach

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    Cancer, like many common disorders, has a complex etiology, often with a strong genetic component and with multiple environmental factors contributing to susceptibility. A considerable number of genomic variants have been previously reported to be causative of, or associated with, an increased risk for various types of cancer. Here, we adopted a next-generation sequencing approach in 11 members of two families of Greek descent to identify all genomic variants with the potential to predispose family members to cancer. Cross-comparison with data from the Human Gene Mutation Database identified a total of 571 variants, from which 47 % were disease-associated polymorphisms, 26 % disease-associated polymorphisms with additional supporting functional evidence, 19 % functional polymorphisms with in vitro/laboratory or in vivo supporting evidence but no known disease association, 4 % putative disease-causing mutations but with some residual doubt as to their pathological significance, and 3 % disease-causing mutations. Subsequent analysis, focused on the latter variant class most likely to be involved in cancer predisposition, revealed two variants of prime interest, namely MSH2 c.2732T>A (p.L911R) and BRCA1 c.2955delC, the first of which is novel. KMT2D c.13895delC and c.1940C>A variants are additionally reported as incidental findings. The next-generation sequencing-based family genomics approach described herein has the potential to be applied to other types of complex genetic disorder in order to identify variants of potential pathological significance

    On 3D Reconstruction of Porous Media by Using Spatial Correlation Functions

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    The challenging process of 3D porous media reconstruction from a single 2D image is investigated in this paper. The reconstruction of the 3D model is based on the statistical information derived from a 2D thin image of the material, by applying a spatial correlation function. For the first time, this paper reviews the commonly used auto-correlation functions for material characterization and discusses their properties making them useful for 3D porous media reconstruction. A set of experiments is conducted in order to analyze the reconstruction capabilities of the studied correlation functions, while some useful conclusions are drawn. Finally, by taking into account the reconstruction performance of the existed correlation functions, some desirable properties that need to be satisfied by an ideal correlation function towards the improvement of the reconstruction accuracy are determined
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