README.md

In adamwaring/POSBURDEN: Rare variant association utilising burden and positional information.

ClusterBurden

Rare variant association using position and burden signals

Relevance of method:

This method is designed for case-control studies where the condition under investigation is caused by rare variants in protein-coding regions. This is the case for most Mendelian diseases and therefore this method is relevant for these.

The method was designed for hypertrophic cardiomyopathy were genes involved in the disorder have variant clustering in key regions of the genes. Under this scenario the position-informative test is more powerful than a simple burden test. However, variant clustering is common in Mendelian disease genes so it can be applied to other disorders as well.

adamwaring/POSBURDEN documentation built on Feb. 21, 2020, 11:21 a.m.