Identification of pathological mutations from the single-gene case to exome projects: lessons from the Fabry disease (Xavier de la Cruz) Identification of pathological mutations from the single-gene case to exome projects: lessons from the Fabry disease
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*Watch the video at the end of the presentation
Seminar led by Dr. Xavier de la Cruz, ICREA Research Professor. Head of the Translational Bioinformatics in Neuroscience group of VHIR, at VHIR (22nd November 2012).
Content: The need to identify the pathological character of mutations may arise in different contexts in biomedical research. However, the methods available to address this problem essentially depend on the number of cases under analysis. When we work with only a few mutations we can use an artisan-like approach, where all information available on protein sequence, structure and function is manually retrieved and studied. However, when we need to characterize many variants, as can be the case in exome projects, faster methods are required to assess their pathogenicity. In my talk I will illustrate the principles underlying these two approaches with examples from the study of Fabry disease mutations, resulting from our collaborative work at the VHIR.
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