Sample A
For whole-exome sequencing of the proband, 1~3g genomic DNA was used for fragmentation, and DNA library construction was prepared according to the manufacturers protocols (Agilent Technologies, Inc., Santa Clara, CA, USA). Genomic DNA was randomly fragmented to an average size of 150-220 bp by Covaris S220 sonicator (Thermofisher, MA, USA). DNA fragments were end-repaired and phosphorylated, followed by A-tailing and ligation at the 3 ends with paired-end multiple indexing adaptors. The quality of the DNA library was assessed using Life Qubit Fluorometer 3.0 and Agilent 2200 TapeStation Instrument (Agilent Technologies, Santa Clara, CA, USA). Sequencing was performed on the Illumina HiSeq X-ten (Illumina, CA, USA) in high-output mode with 150 bp paired-end reads. The original sequencing data were analyzed by FastQC software. Reads were aligned to the human reference sequence (GRCh37/hg19) using the Burrows-Wheeler Aligner tool (v0.7.15-r1140). The Genome Analysis Toolkit tool (v3.7-0) was used for base quality-score recalibration, calling, and filtering variants.