that such genes are highly susceptible to sequencing and alignment errors in short-read sequencing platforms. Three genes (ZNF717, FAT1, OR4C3) were deleted, and we were left with 20 candidate genes, including the causal gene DHODH. Each of the methods described above can be performed by different parameters in ANNOVAR, and we also provide a script that can be issued to perform the variants reduction procedure automatically. The procedure takes only ∼15 min using a modern desktop computer for ∼4.7 million variants.
