331 research outputs found

    Visual Expertise in an Anatomically-inspired Model of the Visual System

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    We report on preliminary results of an anatomically-inspired deep learning model of the visual system and its role in explaining the face inversion effect. Contrary to the generally accepted wisdom, our hypothesis is that the face inversion effect can be accounted for by the representation in V1 combined with the reliance on the configuration of features due to face expertise. We take two features of the primate visual system into account: 1) The foveated retina; and 2) The log-polar mapping from retina to V1. We simulate acquisition of faces, etc., by gradually increasing the number of identities the network learns. We find that the more faces the network knows, the more the network shows the face inversion effect. In contrast, a standard convolutional network’s inversion performance drops to nearly 0 in the same situation

    Azobenzene-functionalized alkanethiols in self-assembled monolayers on gold

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    Self-assembledmonolayers (SAMs) of 4-trifluoromethyl-azobenzene-4'-methyleneoxy-alkanethiols (CF3–C6H4–N=N–C6H4–O–(CH2) n–SH on (111)-oriented polycrystalline gold films on mica were examined by X-ray photoelectron spectroscopy (XPS) and X-ray absorption spectroscopy (XAS). The spectra are analyzed with the help of density-functional-theory calculations of the isolated molecule. Only one doublet is detected in the sulphur 2p spectra of the investigated SAMs, consistent with a thiolate bond of the molecule to the gold surface. The C 1s XP spectra and the corresponding XAS π* resonance exhibit a rich structure which is assigned to the carbon atoms in the different chemical surroundings. Comparing XPS binding energies of the azobenzene moiety and calculated initial-state shifts reveals comparable screening of all C 1s core holes. While the carbon 1s XPS binding energy lies below the π*-resonance excitation-energy, the reversed order is found comparing core ionization and neutral core excitation of the nitrogen 1s core-hole of the azo group. This surprising difference in core-hole binding energies is interpreted as site-dependent polarization screening and charge transfer among the densely packed aromatic moieties. We propose that a quenching of the optical excitation within the molecular layer is thus one major reason for the low trans to cis photo-isomerization rate of azobenzene in romaticaliphatic SAMs

    International Undiagnosed Diseases Programs (UDPs): components and outcomes

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    Over the last 15 years, Undiagnosed Diseases Programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases, integrating research and clinical care to optimize diagnostic outcomes. This narrative review summarizes the published literature surrounding Undiagnosed Diseases Programs worldwide, including thirteen studies that evaluate outcomes and two commentary papers. Commonalities in the diagnostic and research process of Undiagnosed Diseases Programs are explored through an appraisal of available literature. This exploration allowed for an assessment of the strengths and limitations of each of the six common steps, namely enrollment, comprehensive clinical phenotyping, research diagnostics, data sharing and matchmaking, results, and follow-up. Current literature highlights the potential utility of Undiagnosed Diseases Programs in research diagnostics. Since participants have often had extensive previous genetic studies, research pipelines allow for diagnostic approaches beyond exome or whole genome sequencing, through reanalysis using research-grade bioinformatics tools and multi-omics technologies. The overall diagnostic yield is presented by study, since different selection criteria at enrollment and reporting processes make comparisons challenging and not particularly informative. Nonetheless, diagnostic yield in an undiagnosed cohort reflects the potential of an Undiagnosed Diseases Program. Further comparisons and exploration of the outcomes of Undiagnosed Diseases Programs worldwide will allow for the development and improvement of the diagnostic and research process and in turn improve the value and utility of an Undiagnosed Diseases Program

    The Model 2.0 and Friends: An Interim Report

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    Last year, I reported on preliminary results of an anatomically-inspired deep learning model of the visual system and its role in explaining the face inversion effect. This year, I will report on new results and some variations on network architectures that we have explored, mainly as a way to generate discussion and get feedback. This is by no means a polished, final presentation! We look forward to the group’s suggestions for these projects
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