Until now the most efficient solution to align nucleotide sequences containing open reading frames was to use indirect procedures that align amino acid translation before reporting the inferred gap positions at the codon level. There are two important pitfalls with this approach. Firstly, any premature stop codon impedes using such a strategy. Secondly, each sequence is translated with the same reading frame from beginning to end, so that the presence of a single additional nucleotide leads to both aberrant translation and alignment.We present an algorithm that has the same space and time complexity as the classical Needleman-Wunsch algorithm while accommodating sequencing errors and other biological deviations from the coding frame. The resulting pairwise coding sequence alignment method was extended to a multiple sequence alignment (MSA) algorithm implemented in a program called MACSE (Multiple Alignment of Coding SEquences accounting for frameshifts and stop codons). MACSE is the first automatic solution to align protein-coding gene datasets containing non-functional sequences (pseudogenes) without disrupting the underlying codon structure. It has also proved useful in detecting undocumented frameshifts in public database sequences and in aligning next-generation sequencing reads/contigs against a reference coding sequence.MACSE is distributed as an open-source java file executable with freely available source code and can be used via a web interface at: http://mbb.univ-montp2.fr/macse.

Artificial Intelligence federates numerous scientific fields in the aim of developing machines able to assist human operators performing complex treatments -most of which demand high cognitive skills (e.g. learning or decision processes). Central to this quest is to give machines the ability to estimate the likeness or similarity between things in the way human beings estimate the similarity between stimuli.In this context, this book focuses on semantic measures: approaches designed for comparing semantic entities such as units of language, e.g. words, sentences, or concepts and instances defined into knowledge bases. The aim of these measures is to assess the similarity or relatedness of such semantic entities by taking into account their semantics, i.e. their meaning -intuitively, the words tea and coffee, which both refer to stimulating beverage, will be estimated to be more semantically similar than the words toffee (confection) and coffee, despite that the last pair has a higher syntactic similarity. The two state-of-theart approaches for estimating and quantifying semantic similarities/relatedness of semantic entities are presented in detail: the first one relies on corpora analysis and is based on Natural Language Processing techniques and semantic models while the second is based on more or less formal, computer-readable and workable forms of knowledge such as semantic networks, thesaurus or ontologies.Semantic measures are widely used today to compare units of language, concepts, instances, or even resources indexed by them (e.g., documents, genes). They are central elements of a large variety of Natural Language Processing applications and knowledge-based treatments, and have therefore naturally been subject to intensive and interdisciplinary research efforts during last decades. Beyond a simple inventory and categorization of existing measures, the aim of this monograph is to convey novices as well as researchers of these domains towards a better understanding of semantic similarity estimation and more generally semantic measures. To this end, we propose an in-depth characterisation of existing proposals by discussing their features, the assumptions on which they are based and empirical results regarding their performance in particular applications. By answering these questions and by providing a detailed discussion on the foundations of semantic measures, our aim is to give the reader key knowledge required to: (i) select the more relevant methods according to a particular usage context, (ii) understand the challenges offered to this field of study, (iii) distinguish room of improvements for state-of-the-art approaches and (iv) stimulate creativity towards the development of new approaches. In this aim, several definitions, theoretical and practical details, as well as concrete applications are presented.keywords: Semantic similarity, semantic relatedness, semantic measures, distributional measures, domain ontology, knowledge-based semantic measure.iii iv

Downloads, documentation, tutorials, evaluation and support are available at http://www.semantic-measures-library.org.

Ontologies are widely adopted in the biomedical domain to characterize various resources (e.g. diseases, drugs, scientific publications) with non-ambiguous meanings. By exploiting the structured knowledge that ontologies provide, a plethora of ad hoc and domain-specific semantic similarity measures have been defined over the last years. Nevertheless, some critical questions remain: which measure should be defined/chosen for a concrete application? Are some of the, a priori different, measures indeed equivalent? In order to bring some light to these questions, we perform an in-depth analysis of existing ontology-based measures to identify the core elements of semantic similarity assessment. As a result, this paper presents a unifying framework that aims to improve the understanding of semantic measures, to highlight their equivalences and to propose bridges between their theoretical bases. By demonstrating that groups of measures are just particular instantiations of parameterized functions, we unify a large number of state-of-the-art semantic similarity measures through common expressions. The application of the proposed framework and its practical usefulness is underlined by an empirical analysis of hundreds of semantic measures in a biomedical context.

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