WES-seq of Homo sapiens: adult male blood
Genomic DNA was extracted from peripheral blood cells as per the protocols of the Lab-Aid DNA kit (Tiangen Biotech Co., Beijing, China). The target exomes capture was performed using the Agilent SureSelect Human All Exon V5 Kit (Agilent Technologies, Santa Clara, CA), and sequencing was performed on an Illumina Hiseq2500 (Illumina, San Diego, CA, USA) under the manufacturers protocol. The results of the selected pathogenic variants were confirmed by bidirectional Sanger sequencing.