fig1

Figure 1. An overview of the process of variant-calling and gene variant curation. DNA: Deoxyribonucleic acid; SNP: single nucleotide pleomorphism; BAM: binary alignment map; INDELs: insertions and deletions; VCF: variant call format; VEP: variant effect predictor; MAF: minimum allele frequency; ACMG: American college of medical geneticists; OMIM: online mendelian inheritance in man.