We compare different methods to associate genetic variants with an inherited disease in case-control studies. These methods include single-variant testing, aggregation of variants, and methods based on sequence relatedness, as defined in the companion presentation on “Using the relatedness of sequences to fine-map genetic variants". We find the concept of sequence relatedness to be useful for improving the localization of rare causal variants. We conclude with some general recommendations for fine-mapping rare variants in case-control association studies.

Keywords: Fine-mapping, Rare variants, Detection, Localization, Sequence relatedness, Association methods.