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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer’s disease

Fig. 1

Workflow describing rare SRE variant association test using imaging phenotype data. Diagram of how rare variants (RV) from whole-genome sequencing (WGS) data were tested for an association with ADNI imaging data. WGS variants were annotated with VEP then filtered for those that reside in SRE loci (i.e., ESE, ESS, and ISE). Variants were then binned into genes using annotations from LOKI. SKAT-O was then used to test genes for an association with the ADNI imaging endophenotype

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