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Are these other variants really related to the phenotype differences?

Posted by jeremy37 on 10 Mar 2013 at 16:45 GMT

What concerns me is that I don't think the authors have demonstrated that the phenotypic differences between the siblings are due to the variants they selected. I have looked at hundreds of exome samples across perhaps a hundred different monogenic disorders. It is extremely easy to find deleterious variants in any exome that could be plausibly related to the phenotype. That is, every healthy person has numerous probably deleterious variants in their genome. Without actual functional assays that show the effect of a given variant, it is actually very unlikely that any variants you select by "rational" means (e.g. literature search) are related to your phenotype of interest.
In other words, I'm not sure that this study is demonstrating anything at all.

No competing interests declared.