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Workflow type
Galaxy1
Submitter
Helena Rasche1
Space
Galaxy1
Creator
Jasper Ouwerkerk1
Maturity
Stable1
1
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Stable
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 ...