Fig. 1: Screening workflow for rare sporadic and de novo mutations in MMD. | npj Genomic Medicine

Fig. 1: Screening workflow for rare sporadic and de novo mutations in MMD.

From: Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees

Fig. 1: Screening workflow for rare sporadic and de novo mutations in MMD.

A Flowchart illustrating the screening process for identifying rare candidate genes in 126 Chinese sporadic MMD cases from two independent cohorts through WES. B Workflow depicting the screening of de novo mutation candidates identified via WES in 30 MMD probands from core families. MMD Moyamoya Disease, WES, whole-exome sequencing, MAF minor allele frequency, SIFT sorting intolerant from tolerant, assessing mutation impact on protein structure/function, PolyPhen Polymorphism Phenotyping, predicting structural/functional alterations of coding nonsynonymous variants; MutationTaster Tool for evaluating mutation pathogenicity, CADD combined annotation dependent depletion, a scoring system for assessing the deleterious effects of SNPs/indels, predicting functional impacts of coding and non-coding variants.

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