UAB day 4: analytical approaches

http://www.cureffi.org/2012/12/14/uab-day-4-analytical-approaches/

Speaker 1: Suzanne Leal – Methods to detect rare variant association

 

Aggregate tests

• Variously called aggregate tests, burden tests, or collapsing methods.
• Misclassification is a huge issue.  Causal variants may be excluded, neutral variants may be included.  Methods must be robust to misclassification.
• Frequency cutoffs are usually used to determine which variants to include in the analysis.