Title | POINT: Protein Structure Guided Local Test (R) |
Publication Type | Software |
Year of Publication | 2019 |
Authors | West, Rachel Marceau, and Shannon T. Holloway |
Version | 1.0 |
Abstract | 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. |
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