1 item tagged with 'variant-analysis'.
To discover causal mutations of inherited diseases it’s common practice to do a trio analysis. In a trio analysis DNA is sequenced of both the patient and parents. Using this method, it’s possible to identify multiple inheritance patterns. Some examples of these patterns are autosomal recessive, autosomal dominant, and de-novo variants, which are represented in the figure below. To elaborate, the most left tree shows an autosomal dominant inhertitance pattern where the offspring inherits a faulty ...
Creator: Jasper Ouwerkerk
Submitter: Helena Rasche
Created: 9th Jun 2022 at 09:32, Last updated: 1st Mar 2023 at 15:20
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