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\textcolor[RGB]{255,255,255}{{\Large
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  \mbox{\parbox{15.85em}{
  Deep inside the core of our cells resides the deoxyribonucleic acid (DNA) molecule known as the genome.
  DNA encodes the information that allows life to grow, survive, diversify and evolve.
  Unfortunately, the same mechanisms that let us adapt to a changing environment can also cause genetic disorders.
  While we are able to diagnose a number of these disorders using modern technological advancements, much remains to be discovered and understood.
  This thesis presents software infrastructure for investigating the molecular etiology of genetic disease using data from model organisms, demonstrates how to translate findings from fundamental research into new software tools for genome diagnostics, and introduces a downstream genome analysis framework that assists the automation and validation of the latest tools for applied patient care.
  }}
  }
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  ISBN: 978-94-034-0351-9
  }
}}
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