Fig 1. Workflow of variant discovery and validation.

The diagram illustrates a discovery and validation workflow starting from called variants in an African American family of six members with two KD-affected children as a discovery analysis on WGS followed by knowledge-based filtering derived from published GWAS, disease pathogenesis, and gene-level validation using differential transcript abundance. Confidence filter: a call quality at least 20 and read depth at least 10. Differentially expressed: ≥ 1.2-fold change between acute and convalescent whole blood transcripts. Abbrv.: AF: allele frequency; NA: not available, GWAS: genome-wide association study; KD: Kawasaki disease; TLR6: Toll-like receptor 6; MEF2A: myocyte enhancer factor 2A; ARRDC4:arrestin domain containing 4; SLK: STE20 like kinase; TACSTD2: tumor-associated calcium signal transducer 2.