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Validate interesting gene from a burden test and association studies (SkatO, etc)

Hi Everyone

If we test the cummulative effect of a group of variants in a gene (or a region) using burden test and association analysis stuff. If a gene is found very significant, should we validate all variants in the gene using sanger sequence? Doesn't seem reasonable, so what we can do to prove this finding? And also is there any further analyis we should do before any wet lab step? Like something more than pathways, genes functions,GO, etc.

Thanks

snp skat association validation burden

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1 answer

I believe it makes sense to validate a random subset of variants, to give you an idea what the overall false positive rate is of your experiment. An important next step would be to repeat the association in an independent population.

Thanks WouterDeCoster :)

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