Interpretation Not Included

A bioinformatics expert struggles to interpret his own exome sequencing data.

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Well perhap the "vice

Well perhap the "vice president" in charge of informatics products should have had one of his "lackeys" to explain it to him. And maybe take an extension class in Bio 101 at least.

An uninformed comment by

An uninformed comment by Biotreker. The issue is the meaning of 'explain'. Obviously the patient (or sequenced individual) is competent to know what the formal consequences on gene expression/function would be for many variants in his genome/exome. The problem is that for most of these, there is no way to associate these variants causally with differential effects on his physiology. In fact, we are still in the situation where for the most part, only high penetrance mutations in individuals with severe phenotypes are readily interpretable, and not even then.