How can I calculate/obtain the importance (detection rate) of one or more variants to explain a condition?
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6.3 years ago
frba • 0

Hello all,

I would like to know if there is a way to obtain the percentage of a group of genetic variants that explain a condition (a database or dataset). I want to use this information to compute the detection rate of certain condition when I use a specific set of the related variants.

For example, if a specific variant is responsible for explaining 10% of all cases of some condition and I investigate not only this variant, but also three other variants associated with the same condition, what will be the new percentage explained by this group of variants?

Does anyone know any database with this kind of information, or how [website of a company that does that] calculate these values?

variants condition • 1.1k views
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google/pubmed for 'Epistasis'. e.g: How Can I Calculate The Interaction Between Two Snp

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Hello Pierre,

That isn't what I need. But, thank you for try to help me! The tools that you send me deals with a case-control dataset and try to inferring which SNPs interactions are most relevant to identify a disease. I don't have a dataset. What I need is the variant detection rate for a specific disease.

For example the MMCA deficiency:

If I verify the variants: p.R385S,c.1155A>C AND p.L437P,c.1310T>C

The detection rate for a general population will be 37.5%

But, if I add or remove a variant how much will be the new detection rate?

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..but, calculating the 'detection rate' is just a counting exercise based on your sample n and the number of samples in which the respective variants are encountered. You don't need any special function to do that. The detection rates are contingent on the cohort that you have, though.

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