Fig. 1: Functional annotations of coding variants. | Molecular Psychiatry

Fig. 1: Functional annotations of coding variants.

From: Whole-genome sequencing reveals novel ethnicity-specific rare variants associated with Alzheimer’s disease

Fig. 1

Coding variants were assigned the indicated functional annotations by using ANNOVAR. Of the annotations, frameshift deletion/insertion, splicing variants, stop-gain/stop-loss, and nonsynonymous SNVs were defined as potentially deleterious mutations. On the basis of the minor allele frequency (MAF), available from ToMMo 8.3KJPN, the variants were classified into three groups: rare (MAF < 0.01), infrequent (0.01 ≤ MAF ≤ 0.05), and common (0.05 < MAF).

Back to article page