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Mendelian Tricks: Trinucleotide Repeat Expansions

Course video 33 of 38

During the last two weeks, we have been discussing the approaches to finding variants and genomic regions underlying the development of human disorders or predisposition to them. The question is – what are the next steps that should be taken in order to prove the causality of the identified variants? Moreover, we are eager to understand if these findings can be translated into the clinics. Can these variants provide predictive or prognostic information and do they have any important pharmacological implications? Will the answers be the same for variants underlying Mendelian and complex disorders? Gert Matthijs, Yurii Aulchenko and Michel Georges will tell you more this week.

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