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AGI YII webinar series: NGS analysis in ataxias: what it is and how it is done
Scope of the seminar is to introduce and explain the basis of exome and genome sequencing and its analysis in genetic ataxias. Focus will be on the discussion of the strengths and limitations of these sequencing techniques, but in particular also of their analyses. The importance of filter settings will be demonstrated by illustrative exemplary hands-on demonstrations of how to do exome/genome analysis. The seminar will present the major international NGS ataxia pipelines, and provide an outlook on the next steps in ataxia genomics.
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