WES of Human
The peripheral blood leukocytes of the participants were extracted for genomic DNA following the established protocols. Whole-exome sequencing (WES) was performed on a NovaSeq 6000 platform (Illumina, USA) by the xGen Exome Research Panel v2.0 (Integrated DNA Technologies, USA). Sequencing achieved a target region coverage of over 99.2% at a depth of >20, and the average depth exceeded 100. The original sequencing data were aligned to the GRCh37 reference genome which was more widely used than GRCh38 by the Burrows-Wheeler Aligner (BWA). To find short variants, the resulting alignment files were processed by the GATK Best Practices workflow. Copy number variants (CNVs) were detected by reading and analyzing in-depth data. The prioritization of candidate objects was informed by a significant decrease in their coverage rate compared to parental samples or normal controls.