77 research outputs found

    Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing

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    Clear cell renal carcinomas (ccRCCs) can display intratumor heterogeneity (ITH). We applied multiregion exome sequencing (M-seq) to resolve the genetic architecture and evolutionary histories of ten ccRCCs. Ultra-deep sequencing identified ITH in all cases. We found that 73–75% of identified ccRCC driver aberrations were subclonal, confounding estimates of driver mutation prevalence. ITH increased with the number of biopsies analyzed, without evidence of saturation in most tumors. Chromosome 3p loss and VHL aberrations were the only ubiquitous events. The proportion of C>T transitions at CpG sites increased during tumor progression. M-seq permits the temporal resolution of ccRCC evolution and refines mutational signatures occurring during tumor development

    Tools and Algorithms for the Construction and Analysis of Systems

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    This open access two-volume set constitutes the proceedings of the 27th International Conference on Tools and Algorithms for the Construction and Analysis of Systems, TACAS 2021, which was held during March 27 – April 1, 2021, as part of the European Joint Conferences on Theory and Practice of Software, ETAPS 2021. The conference was planned to take place in Luxembourg and changed to an online format due to the COVID-19 pandemic. The total of 41 full papers presented in the proceedings was carefully reviewed and selected from 141 submissions. The volume also contains 7 tool papers; 6 Tool Demo papers, 9 SV-Comp Competition Papers. The papers are organized in topical sections as follows: Part I: Game Theory; SMT Verification; Probabilities; Timed Systems; Neural Networks; Analysis of Network Communication. Part II: Verification Techniques (not SMT); Case Studies; Proof Generation/Validation; Tool Papers; Tool Demo Papers; SV-Comp Tool Competition Papers

    Grid-enabled adaptive surrugate modeling for computer aided engineering

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    Software for Exascale Computing - SPPEXA 2016-2019

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    This open access book summarizes the research done and results obtained in the second funding phase of the Priority Program 1648 "Software for Exascale Computing" (SPPEXA) of the German Research Foundation (DFG) presented at the SPPEXA Symposium in Dresden during October 21-23, 2019. In that respect, it both represents a continuation of Vol. 113 in Springer’s series Lecture Notes in Computational Science and Engineering, the corresponding report of SPPEXA’s first funding phase, and provides an overview of SPPEXA’s contributions towards exascale computing in today's sumpercomputer technology. The individual chapters address one or more of the research directions (1) computational algorithms, (2) system software, (3) application software, (4) data management and exploration, (5) programming, and (6) software tools. The book has an interdisciplinary appeal: scholars from computational sub-fields in computer science, mathematics, physics, or engineering will find it of particular interest

    Evolutionary genomics : statistical and computational methods

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    This open access book addresses the challenge of analyzing and understanding the evolutionary dynamics of complex biological systems at the genomic level, and elaborates on some promising strategies that would bring us closer to uncovering of the vital relationships between genotype and phenotype. After a few educational primers, the book continues with sections on sequence homology and alignment, phylogenetic methods to study genome evolution, methodologies for evaluating selective pressures on genomic sequences as well as genomic evolution in light of protein domain architecture and transposable elements, population genomics and other omics, and discussions of current bottlenecks in handling and analyzing genomic data. Written for the highly successful Methods in Molecular Biology series, chapters include the kind of detail and expert implementation advice that lead to the best results. Authoritative and comprehensive, Evolutionary Genomics: Statistical and Computational Methods, Second Edition aims to serve both novices in biology with strong statistics and computational skills, and molecular biologists with a good grasp of standard mathematical concepts, in moving this important field of study forward

    Optimization for Decision Making II

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    In the current context of the electronic governance of society, both administrations and citizens are demanding the greater participation of all the actors involved in the decision-making process relative to the governance of society. This book presents collective works published in the recent Special Issue (SI) entitled “Optimization for Decision Making II”. These works give an appropriate response to the new challenges raised, the decision-making process can be done by applying different methods and tools, as well as using different objectives. In real-life problems, the formulation of decision-making problems and the application of optimization techniques to support decisions are particularly complex and a wide range of optimization techniques and methodologies are used to minimize risks, improve quality in making decisions or, in general, to solve problems. In addition, a sensitivity or robustness analysis should be done to validate/analyze the influence of uncertainty regarding decision-making. This book brings together a collection of inter-/multi-disciplinary works applied to the optimization of decision making in a coherent manner

    BNAIC 2008:Proceedings of BNAIC 2008, the twentieth Belgian-Dutch Artificial Intelligence Conference

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    Fundamental Approaches to Software Engineering

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    This open access book constitutes the proceedings of the 24th International Conference on Fundamental Approaches to Software Engineering, FASE 2021, which took place during March 27–April 1, 2021, and was held as part of the Joint Conferences on Theory and Practice of Software, ETAPS 2021. The conference was planned to take place in Luxembourg but changed to an online format due to the COVID-19 pandemic. The 16 full papers presented in this volume were carefully reviewed and selected from 52 submissions. The book also contains 4 Test-Comp contributions

    Multi-Objective Optimization in Metabolomics/Computational Intelligence

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    The development of reliable computational models for detecting non-linear patterns encased in throughput datasets and characterizing them into phenotypic classes has been of particular interest and comprises dynamic studies in metabolomics and other disciplines that are encompassed within the omics science. Some of the clinical conditions that have been associated with these studies include metabotypes in cancer, in ammatory bowel disease (IBD), asthma, diabetes, traumatic brain injury (TBI), metabolic syndrome, and Parkinson's disease, just to mention a few. The traction in this domain is attributable to the advancements in the procedures involved in 1H NMR-linked datasets acquisition, which have fuelled the generation of a wide abundance of datasets. Throughput datasets generated by modern 1H NMR spectrometers are often characterized with features that are uninformative, redundant and inherently correlated. This renders it di cult for conventional multivariate analysis techniques to e ciently capture important signals and patterns. Therefore, the work covered in this research thesis provides novel alternative techniques to address the limitations of current analytical pipelines. This work delineates 13 variants of population-based nature inspired metaheuristic optimization algorithms which were further developed in this thesis as wrapper-based feature selection optimizers. The optimizers were then evaluated and benchmarked against each other through numerical experiments. Large-scale 1H NMR-linked datasets emerging from three disease studies were employed for the evaluations. The rst is a study in patients diagnosed with Malan syndrome; an autosomal dominant inherited disorder marked by a distinctive facial appearance, learning disabilities, and gigantism culminating in tall stature and macrocephaly, also referred to as cerebral gigantism. Another study involved Niemann-Pick Type C1 (NP-C1), a rare progressive neurodegenerative condition marked by intracellular accrual of cholesterol and complex lipids including sphingolipids and phospholipids in the endosomal/lysosomal system. The third study involved sore throat investigation in human (also known as `pharyngitis'); an acute infection of the upper respiratory tract that a ects the respiratory mucosa of the throat. In all three cases, samples from pathologically-con rmed cohorts with corresponding controls were acquired, and metabolomics investigations were performed using 1H NMR technique. Thereafter, computational optimizations were conducted on all three high-dimensional datasets that were generated from the disease studies outlined, so that key biomarkers and most e cient optimizers were identi ed in each study. The clinical and biochemical signi cance of the results arising from this work were discussed and highlighted
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