Figure 2. Filtering of exome sequencing data.

Graphic illustration of the filtering process applied to the exome datasets in order to select out likely candidate causal variants for this ostensibly autosomal recessive condition. Other databases = 1000 Genomes, NCHLBI Exome Sequencing Project, and the Complete Genomic 69 database. dbSNP = database of single nucleotide polymorphisms; MAF = minor allele frequency.