Exome Variations Analyzer

Sophie Coutant, Arnaud Lefebvre, Martine Léonard, Thierry Lecroq, Hélène Dauchel, Dominique Campion, Univ. Rouen, France

• Abstract
  In August 2009, Sarah Ng et al. (Targeted capture and massively
  parallel sequencing of 12 human exomes, Nature 461, 272-276 (2009))
  show the proof of concept, that identifying a Mendelian disorder was
  possible using whole exome sequencing. Since then, many other
  publications confirmed the success of such a strategy. Thus the need
  for developing a tool for analyzing data from exome sequencing
  projects. In this talk we will briefly recall the different phases of
  an exome sequencing project: from the capture of the exons, the
  sequencing and the identification of the different variations. After
  prsenting some basic countings on different exome projects we will
  focus on the analysis on the variations. EVA (Exome Variation
  Analyzer) is a simple, user-friendly and efficient tool which aim is
  to help researchers involved in medical projects using exome
  sequencing. It consists of a database, called exomeDB, and a web
  interface. Its aim is twofold: store variations data and help
  biologists to filter and interpret these data. Access is available
  through an authentification process which guarantees data
  confidentiality. The web interface proposes three modalities:
  
  • filtering which is the main feature dedicated to the analysis;
    
  • browsing which enables to explore the data by projects, individuals,
    genes or variations;
    
  • searching which provides a quick access to a specific gene or a
    specific variation for a given project.
    

  There are two ways of using the filters: recurrence strategy and
  familial strategy. They are suitable to analyze dominant pathologies,
  recessive pathologies and intrafamilial data. This is a collaborative
  work between INSERM Unit U614 and the LITIS laboratory at the
  University of Rouen, France.