title: WES of the patient's mother
design: Whole Exome Sequencing (WES) was performed for the proband and the mother by Macrogen Laboratory (https://dna.macrogen.com/ )(Seoul, South Korea). One-hundred one base pair (pair-ended) reads were sequenced using Illumina NovaSeq6000 platform. The library preparation was performed according to the manufacturers protocol.  In brief, using random fragmentation of the DNA, the library is prepared followed by 5' and 3' adapter ligation and tagmentation. After that, adapter-ligated fragments are amplified by polymerase chain reaction (PCR) and gel purification, and the library is loaded into a flow cell. The fragments are captured in this flow cell on a lawn of surface-bound oligos complementary to the library adapters for cluster generation. Later, each fragment is amplified using bridge amplification into distinctive, clonal clusters.  By that, cluster generation is complete, and the templates are ready for sequencing.  The data sequenced is converted to raw data and base calling is done using Illumina sequencer and raw images is generated using and using RTA (Real Time Analysis) software. Finally, using illumina package bcl2fastq, the BCL (base calls) binary is converted into FASTQ (paired-end reads) for the analysis.  The Phred quality value was around +33, which means that the base call accuracy was 99.9%