Additional file 2: of Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing

Examples of primer design and supporting reads for the large-rearranged mutations. A. Deletion of ~5Kb in the GALT gene, leading to Galactosemia. This mutation is composed of four breakpoints, leading to two large deletions and one small insertion, and resulting in the loss of almost the entire gene (adapted from Coffee et al. [27]). Vertical arrows depict the breakpoints, and horizontal arrows mark the primers used for capture. Primers 1 F +1R are used to capture the amplicon created in the 5′ deleted region, and the 2 F + 2R primers are used to capture the amplicon created in the 3′ indel region. B. Insertion of a 353 bp Alu element into the MAK gene leads to Retinitis Pigmentosa (found by Tucker et al. [28]). (PNG 69 kb