Fig. 1: Schematic of the stepwise for ROH prioritization.
From: Long runs of homozygosity are associated with Alzheimer’s disease
1. Identification of ROH segments per individual; 2. Estimation of: homozygosity parameters, and 3. Consensus ROHs; 4. Association analysis between: a) Homozygosity parameters and AD status, and b) Consensus ROH and AD status; 5. Identification of inbred AD cases and ROH prioritization; 6. Exploration of selected ROH segments in WES data applying: a) Gene-based strategy, and b) Variant filtering strategy.
