Rare variant analysis

Question

[Sharon]

I started doing some rare variant association analysis tests like burden tests and other types. Some methods say whether it suits risk-increasing and risk-decreasing variants . I don't understand what is the meaning of risk increasing versus risk decreasing variants? Thanks

Answer 1

[WouterDeCoster]

Well, ehm, to me it's pretty self-explanatory:

• a risk-increasing variant increases your risk to get a certain disease
• a risk-decreasing variant decreases your risk to get a certain disease

Does that help? What's unclear exactly?

[Sharon]

I think I did not clarify my question correctly. So, when they say 'this given approach works when variants have the same direction', by same direction they mean all variants are risk increasing or all variants are risk decreasing?

[WouterDeCoster]

Yes - that's what it means. In that case, if you have both risk-increasing and risk-decreasing variants your test will not work.

[Sharon]

OK, Got it. Many thanks

[WouterDeCoster]

If an answer was helpful you should upvote it, if the answer resolved your question you should mark it as accepted.