Julie D. Thompson

MAGOS: multiple alignment and modelling server

UNLABELLEDnMAGOS is a web server allowing automated protein modelling coupled to the creation of a hierarchical and annotated multiple alignment of complete sequences. MAGOS is designed for an interactive approach of structural information within the framework of the evolutionary relevance of mined and predicted sequence information.nnnAVAILABILITYnThe web server is freely available at http://pig-pbil.ibcp.fr/magos.

Knowledge Based Expert Systems in Bioinformatics

The recent revolution in genomics and bioinformatics has taken the world by storm. From company boardrooms to political summits, the issues surrounding the human genome, including the analysis of genetic variation, access to genetic information and the privacy of the individual have fuelled public debate and extended way beyond the scientific and technical literature. During the past few years, bioinformatics has become one of the most highly visible fields of modern science. Yet, this ‘new’ field has a long history, starting with the triumphs of molecular genetics and cell biology of the last century, where bioinformatics was used for the computational treatment and processing of molecular and genetic data. Despite its widespread use, no single standard definition exists to describe bioinformatics. From the biologist’s point of view, it is generally considered to be the use of computational methods and tools to handle large amounts of data and the application of information science principles and technologies to make the vast, diverse, and complex life sciences data more understandable and useful. On the other hand, a computational scientist will generally define bioinformatics as a direct application area of existing algorithms and tools and the use of mathematical and computational approaches to address theoretical and experimental questions in biology. In July 2000, the NIH (National Institute of Health) released a working definition of bioinformatics as the research, development, or application of computational tools and approaches for expanding the use of biological, medical, behavioural or health data, including those to acquire, store, organize, archive, analyze, or visualize such data, where as computational biology was defined as the development and application of data-analytical and theoretical methods, mathematical modelling and computational simulation techniques to the study of biological, behavioural, and social systems.

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder. Early onset of symptoms with hypotonia, motor developmental delay, proximal muscle weakness, and a stable course were common clinical features in the cohort. Ptosis and/or ophthalmoparesis, facial weakness, thoracic deformities, and spinal involvement were also frequent but variable. A common imaging pattern consisted of selective involvement of the vastus lateralis, adductor magnus, and biceps brachii in comparison to adjacent muscles. In addition to a variable prominence of central nuclei, muscle biopsy from 20 patients showed type 1 fiber predominance and a wide range of intermyofibrillary architecture abnormalities. All families harbored compound heterozygous mutations, most commonly a truncating mutation combined with a missense mutation. This work expands the phenotypic characterization of patients with recessive RYR1-related centronuclear myopathy by highlighting common and variable clinical, histological, and imaging findings in these patients.