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I must admit that I have not a lot of experience with statistical genetics. And I dont fully understand what you mean by "carriers of disease and non-carriers". It is also not totally clear from your question what your goal is. The first thing you could do is a $\chi^{2}$-test to test whether the distributions of variants differ between sick and healthy ...


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As you say, you're asking two distinct questions. Question 1 "is the ratio L*/L1+ different from B*/B1+ for a given gene function" this might be best answered with Fisher's exact test using data across the row as you found previously. Question 2 "is the ratio: genes where there is a single copy / genes where there is more than one copy, different between ...



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