Despite considerable insight from GWAS and sequencing studies, much of late-onset Alzheimer’s Disease (LOAD) heritability remains unexplained leading to uncertain risk stratification of patients and no available disease-modifying therapies. To date, the APOE gene remains the strongest genetic risk factor for LOAD. Carriers of the APOEɛ4 allele are at a greater risk, while the APOEɛ2 allele plays a protective role. However, many APOEɛ4 carriers remain disease-free and some APOEɛ2 carriers develop LOAD.

iDEAL, or imputed Deviation of Evolutionary Action Load, is a novel approach that identifies genes with differential mutational burden between the two paradoxical patient groups through a series of linear regression analyses.

Kim YW, Al-Ramahi I, Koire A, Wilson SJ, Konecki DM, Mota S, Soleimani S, Botas J, Lichtarge O. Harnessing the Paradoxical Phenotypes of APOE2 and APOE4 to Identify Genetic Modifiers in Alzheimer's Disease. Alzheimer's & Dementia. 2020

• Linux or OSx
• Anaconda
• Python 3.6+

git clone https://github.com/semper21/iDEAL_AD.git 

conda env create -f environment.yml