E-Biothon : Une plate-forme pour accélérer les recherches en biologie, santé et environnement

National audienceE-Biothon : Une plate-forme pour accélérer les recherches en biologie, santé et environnemen

Synchronized navigation and comparative analyses across Ensembl complete bacterial genomes with INSYGHT.

International audienceMotivation: High-throughput sequencing technologies provide access to an increasing number of bacterial genomes. Today, many analyses involve the comparison of biological properties among many strains of a given species, or among species of a particular genus. Tools that can help the microbiologist with these tasks become increasingly important. Results: Insyght is a comparative visualization tool whose core features combine a synchronized navigation across genomic data of multiple organisms with a versatile interoperability between complementary views. In this work, we have greatly increased the scope of the Insyght public data- set by including 2688 complete bacterial genomes available in Ensembl thus vastly improving its phylogenetic coverage. We also report the development of a virtual machine that allows users to easily set up and customize their own local Insyght server

Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders

Introduction: The rare coagulation disorders may present significant difficulties in diagnosis and management. In addition, considerable inter-individual variation in bleeding phenotype is observed amongst affected individuals, making the bleeding risk difficult to assess in affected individuals. The last international recommendations on rare inherited bleeding disorders (RIBDs) were published by the United Kingdom Haemophilia Centre Doctors' Organisation in 2014. Since then, new drugs have been marketed, news studies on surgery management in patients with RIBD have been published, and new orphan diseases have been described. Aim: Therefore, the two main objectives of this review, based on the recent recommendations published by the French Reference Centre on Haemophilia and Rare Bleeding Disorders, are: (i) to briefly describe RIBD (clinical presentation and diagnostic work-up) to help physicians in patient screening for the early detection of such disorders; and (ii) to focus on the current management of acute haemorrhages and long term prophylaxis, surgical interventions, and pregnancy/delivery in patients with RIBD.</p

E-Biothon : Une plate-forme pour accélérer les recherches en biologie, santé et environnement

National audienceE-Biothon : Une plate-forme pour accélérer les recherches en biologie, santé et environnemen