Congenital hydrocephalus : new Mendelian mutations and evidence for oligogenic inheritance

Peer reviewe

Using game theory and decision decomposition to effectively discern and characterise bi-locus diseases

In order to gain insight into oligogenic disorders, understanding those involving bi-locus variant combinations appears to be key. In prior work, we showed that features at multiple biological scales can already be used to discriminate among two types, i.e. disorders involving true digenic and modifier combinations. The current study expands this machine learning work towards dual molecular diagnosis cases, providing a classifier able to effectively distinguish between these three types. To reach this goal and gain an in-depth understanding of the decision process, game theory and tree decomposition techniques are applied to random forest predictors to investigate the relevance of feature combinations in the prediction. A machine learning model with high discrimination capabilities was developed, effectively differentiating the three classes in a biologically meaningful manner. Combining prediction interpretation and statistical analysis, we propose a biologically meaningful characterization of each class relying on specific feature strengths. Figuring out how biological characteristics shift samples towards one of three classes provides clinically relevant insight into the underlying biological processes as well as the disease itself.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

White Paper 11: Artificial intelligence, robotics & data science

198 p. : 17 cmSIC white paper on Artificial Intelligence, Robotics and Data Science sketches a preliminary roadmap for addressing current R&D challenges associated with automated and autonomous machines. More than 50 research challenges investigated all over Spain by more than 150 experts within CSIC are presented in eight chapters. Chapter One introduces key concepts and tackles the issue of the integration of knowledge (representation), reasoning and learning in the design of artificial entities. Chapter Two analyses challenges associated with the development of theories –and supporting technologies– for modelling the behaviour of autonomous agents. Specifically, it pays attention to the interplay between elements at micro level (individual autonomous agent interactions) with the macro world (the properties we seek in large and complex societies). While Chapter Three discusses the variety of data science applications currently used in all fields of science, paying particular attention to Machine Learning (ML) techniques, Chapter Four presents current development in various areas of robotics. Chapter Five explores the challenges associated with computational cognitive models. Chapter Six pays attention to the ethical, legal, economic and social challenges coming alongside the development of smart systems. Chapter Seven engages with the problem of the environmental sustainability of deploying intelligent systems at large scale. Finally, Chapter Eight deals with the complexity of ensuring the security, safety, resilience and privacy-protection of smart systems against cyber threats.18 EXECUTIVE SUMMARY ARTIFICIAL INTELLIGENCE, ROBOTICS AND DATA SCIENCE Topic Coordinators Sara Degli Esposti ( IPP-CCHS, CSIC ) and Carles Sierra ( IIIA, CSIC ) 18 CHALLENGE 1 INTEGRATING KNOWLEDGE, REASONING AND LEARNING Challenge Coordinators Felip Manyà ( IIIA, CSIC ) and Adrià Colomé ( IRI, CSIC – UPC ) 38 CHALLENGE 2 MULTIAGENT SYSTEMS Challenge Coordinators N. Osman ( IIIA, CSIC ) and D. López ( IFS, CSIC ) 54 CHALLENGE 3 MACHINE LEARNING AND DATA SCIENCE Challenge Coordinators J. J. Ramasco Sukia ( IFISC ) and L. Lloret Iglesias ( IFCA, CSIC ) 80 CHALLENGE 4 INTELLIGENT ROBOTICS Topic Coordinators G. Alenyà ( IRI, CSIC – UPC ) and J. Villagra ( CAR, CSIC ) 100 CHALLENGE 5 COMPUTATIONAL COGNITIVE MODELS Challenge Coordinators M. D. del Castillo ( CAR, CSIC) and M. Schorlemmer ( IIIA, CSIC ) 120 CHALLENGE 6 ETHICAL, LEGAL, ECONOMIC, AND SOCIAL IMPLICATIONS Challenge Coordinators P. Noriega ( IIIA, CSIC ) and T. Ausín ( IFS, CSIC ) 142 CHALLENGE 7 LOW-POWER SUSTAINABLE HARDWARE FOR AI Challenge Coordinators T. Serrano ( IMSE-CNM, CSIC – US ) and A. Oyanguren ( IFIC, CSIC - UV ) 160 CHALLENGE 8 SMART CYBERSECURITY Challenge Coordinators D. Arroyo Guardeño ( ITEFI, CSIC ) and P. Brox Jiménez ( IMSE-CNM, CSIC – US )Peer reviewe

Virtual Reality Games for Motor Rehabilitation

This paper presents a fuzzy logic based method to track user satisfaction without the need for devices to monitor users physiological conditions. User satisfaction is the key to any product’s acceptance; computer applications and video games provide a unique opportunity to provide a tailored environment for each user to better suit their needs. We have implemented a non-adaptive fuzzy logic model of emotion, based on the emotional component of the Fuzzy Logic Adaptive Model of Emotion (FLAME) proposed by El-Nasr, to estimate player emotion in UnrealTournament 2004. In this paper we describe the implementation of this system and present the results of one of several play tests. Our research contradicts the current literature that suggests physiological measurements are needed. We show that it is possible to use a software only method to estimate user emotion

Women in Artificial intelligence (AI)

This Special Issue, entitled "Women in Artificial Intelligence" includes 17 papers from leading women scientists. The papers cover a broad scope of research areas within Artificial Intelligence, including machine learning, perception, reasoning or planning, among others. The papers have applications to relevant fields, such as human health, finance, or education. It is worth noting that the Issue includes three papers that deal with different aspects of gender bias in Artificial Intelligence. All the papers have a woman as the first author. We can proudly say that these women are from countries worldwide, such as France, Czech Republic, United Kingdom, Australia, Bangladesh, Yemen, Romania, India, Cuba, Bangladesh and Spain. In conclusion, apart from its intrinsic scientific value as a Special Issue, combining interesting research works, this Special Issue intends to increase the invisibility of women in AI, showing where they are, what they do, and how they contribute to developments in Artificial Intelligence from their different places, positions, research branches and application fields. We planned to issue this book on the on Ada Lovelace Day (11/10/2022), a date internationally dedicated to the first computer programmer, a woman who had to fight the gender difficulties of her times, in the XIX century. We also thank the publisher for making this possible, thus allowing for this book to become a part of the international activities dedicated to celebrating the value of women in ICT all over the world. With this book, we want to pay homage to all the women that contributed over the years to the field of AI

Christian hermeneutics in South Africa

Hermeneutics remains a divisive and polarizing topic within scholarly and ecclesiastical communities in South Africa. These tensions are not limited to theoretical differences but often crystallize on a grassroots level when local churches and church assemblies have to make important decisions on controversial ethical topics such as ordaining women in church offices, assessing the ethics of gay marriages, and taking a stance on the land debate in South Africa. This book makes a unique contribution in two ways: firstly, it focuses on the uniquely South African hermeneutical landscape; secondly, it relates theories to practical ethical application. The unique scholarly contribution of this consists in it relating hermeneutics to ethics within the South African landscape. A diverse group of scholars have been invited to partake in the project and the views expressed are often quite diverse. This allows readers to develop an understanding and sensitivity of the various angles employed and the interests at stake in addressing difficult societal problems

Using MapReduce Streaming for Distributed Life Simulation on the Cloud

Distributed software simulations are indispensable in the study of large-scale life models but often require the use of technically complex lower-level distributed computing frameworks, such as MPI. We propose to overcome the complexity challenge by applying the emerging MapReduce (MR) model to distributed life simulations and by running such simulations on the cloud. Technically, we design optimized MR streaming algorithms for discrete and continuous versions of Conway’s life according to a general MR streaming pattern. We chose life because it is simple enough as a testbed for MR’s applicability to a-life simulations and general enough to make our results applicable to various lattice-based a-life models. We implement and empirically evaluate our algorithms’ performance on Amazon’s Elastic MR cloud. Our experiments demonstrate that a single MR optimization technique called strip partitioning can reduce the execution time of continuous life simulations by 64%. To the best of our knowledge, we are the first to propose and evaluate MR streaming algorithms for lattice-based simulations. Our algorithms can serve as prototypes in the development of novel MR simulation algorithms for large-scale lattice-based a-life models.https://digitalcommons.chapman.edu/scs_books/1014/thumbnail.jp

Christian hermeneutics in South Africa

Hermeneutics remains a divisive and polarizing topic within scholarly and ecclesiastical communities in South Africa. These tensions are not limited to theoretical differences but often crystallize on a grassroots level when local churches and church assemblies have to make important decisions on controversial ethical topics such as ordaining women in church offices, assessing the ethics of gay marriages, and taking a stance on the land debate in South Africa. This book makes a unique contribution in two ways: firstly, it focuses on the uniquely South African hermeneutical landscape; secondly, it relates theories to practical ethical application. The unique scholarly contribution of this consists in it relating hermeneutics to ethics within the South African landscape. A diverse group of scholars have been invited to partake in the project and the views expressed are often quite diverse. This allows readers to develop an understanding and sensitivity of the various angles employed and the interests at stake in addressing difficult societal problems