2.2 | WES
Genomic DNA was extracted from peripheral blood leukocytes using a Wizard Genomic DNA Purification Kit following the manufacturer’s instructions (Promega, Madison, WI, USA). SureSelect Human All Exon V5 (Agilent Technologies, Santa Clara, CA, USA) was used for library preparation; and sequencing was performed on an Illumina HiSeq2500 platform (Illumina Inc., San Diego, CA, USA) to generate 2 × 100-bp paired-end reads. Sequence reads were aligned against the Human Reference Genome build GRCh37 using BWA 0.7.12; duplicated reads were marked with Picard Tools 1.130; local alignment, base quality recalibration and variant calling were conducted using the Genome Analysis Tool Kit v3.4.0; and annotation and variant effect prediction were performed with SnpEff v4.1g.