POINT: Protein Structure Guided Local Test (R)

TitlePOINT: Protein Structure Guided Local Test (R)
Publication TypeSoftware
Year of Publication2019
AuthorsWest, Rachel Marceau, and Shannon T. Holloway

A rare variant association test that utilizes protein tertiary structure to increase signal and to identify likely causal variants. Performs structure-guided collapsing, which leads to local tests that borrow information from neighboring variants on a protein and that provide association information on a variant-specific level.