BACKGROUND: Identifying variants associated with diseases is a challenging task in medical genetics research. Current studies that prioritize variants within individual genomes generally rely on known variants, evidence from literature and genomes, and patient symptoms and clinical signs. The functionalities of the existing tools, which rank variants based on given patient symptoms and clinical signs, are restricted to the coverage of ontologies such as the Human Phenotype Ontology (HPO). However, most clinicians do not limit themselves to HPO while describing patient symptoms/signs and their associated variants/genes. There is thus a need for an automated tool that can prioritize variants based on freely expressed patient symptoms and clinical signs. RESULTS: STARVar is a Symptom-based Tool for Automatic Ranking of Variants using evidence from literature and genomes. STARVar uses patient symptoms and clinical signs, either linked to HPO or expressed in free text format. It returns a ranked list of variants based on a combined score from two classifiers utilizing evidence from genomics and literature. STARVar improves over related tools on a set of synthetic patients. In addition, we demonstrated its distinct contribution to the domain on another synthetic dataset covering publicly available clinical genotype-phenotype associations by using symptoms and clinical signs expressed in free text format. CONCLUSIONS: STARVar stands as a unique and efficient tool that has the advantage of ranking variants with flexibly expressed patient symptoms in free-form text. Therefore, STARVar can be easily integrated into bioinformatics workflows designed to analyze disease-associated genomes. AVAILABILITY: STARVar is freely available from https://github.com/bio-ontology-research-group/STARVar .

MOTIVATION: Advancing the search, publication and integration of bioinformatics tools and resources demands consistent machine-understandable descriptions. A comprehensive ontology allowing such descriptions is therefore required. RESULTS: EDAM is an ontology of bioinformatics operations (tool or workflow functions), types of data and identifiers, application domains and data formats. EDAM supports semantic annotation of diverse entities such as Web services, databases, programmatic libraries, standalone tools, interactive applications, data schemas, datasets and publications within bioinformatics. EDAM applies to organizing and finding suitable tools and data and to automating their integration into complex applications or workflows. It includes over 2200 defined concepts and has successfully been used for annotations and implementations. AVAILABILITY: The latest stable version of EDAM is available in OWL format from http://edamontology.org/EDAM.owl and in OBO format from http://edamontology.org/EDAM.obo. It can be viewed online at the NCBO BioPortal and the EBI Ontology Lookup Service. For documentation and license please refer to http://edamontology.org. This article describes version 1.2 available at http://edamontology.org/EDAM_1.2.owl. CONTACT: [email protected].

The EMBRACE project is a network of European partners providing services which integrate the major data resources and analysis software tools using web services and emerging grid technologies. Prototype services are available for the core data resources and the most commonly used tools for sequence analysis. Data access uses the WSDbFetch and BioMart services from the European Bioinformatics Institute. Software tool services use the SoapLab services, also from the European Bioinformatics Institute. The preferred client for these services is Taverna from the myGrid project. Subprojects are collecting and analyzing biological use cases, and maintaining a watch on emerging grid technology in Europe.

In this paper we describe the ILA-2 rule induction algorithm, which is the improved version of a novel inductive learning algorithm ILA . We first outline the basic algorithm ILA, and then present how the algorithm is improved using a new evaluation metric that handles uncertainty in the data. By using a new soft computing metric, users can reflect their preferences through a penalty factor to control the performance of the algorithm. Inductive learning algorithm has also a faster pass criteria feature which reduces the processing time without sacrificing much from the accuracy that is not available in basic ILA. We experimentally show that the performance of ILA-2 is comparable to that of well-known inductive learning algorithms, namely, CN2, OC1, ID3, and C4.5.