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GeneTalk Rankings

Thanks to all of you who contributed valuable annotations, comments and rankings for variants over the recent months! Many of you pointed out that some variants were ranked too high in the category medical relevance. Well, from an epidemiologist point of view it is often difficult to decide whether an allele is merely disease associated or actually disease causing. A small association does not mean that there is no causal effect. Though the smaller the association, the less likely that it is causal.

With the recent data from large population studies we reviewed the Bradford Hill Criterium “strenght” for all variants. If an allele occurs in at least one percent of the healthy population or if there are at least 6 individuals in 60,000 that show a homozygous genotype for the allele and do not suffer from a rare disorder then we reassessed the variant as probably not disease causing. However, if a variant is mentioned in an article, then we point this out by a 2 star ranking in medical relevance and link to the paper in the annotation.

Now it depends again on the GeneTalk community to further clarify the status of such variants! As Bradford Hill phrased it in his second criterium “Consistent findings observed by different persons in different places with different samples strengthens the likelihood of an effect”. As described in more detail in our Whitepaper about annotations the ranking of a variant that is used in the filter, change if the majority of the GeneTalk users thinks that another classification is appropriate.