POINT
Protein Structure Guided Local Test
Last update: 1 October 2023
Copyright license: GNU General Public License, version 2.0
Software version identifier: 1.2, 1.1, 1.2, 1.3
Provides an implementation of 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. For details of the implemented method see West, R. M., Lu, W., Rotroff, D. M., Kuenemann, M., Chang, S-M., Wagner M. J., Buse, J. B., Motsinger-Reif, A., Fourches, D., and Tzeng, J-Y. (2019) <doi:10.1371/journal.pcbi.1006722>.
