Targeted Sequencing of Genomic Regions

Probes were designed to capture open reading frame (ORF), 3′UTR, 5′UTR, and 2KB of upstream promotor of selected genes on Agilent eArray platform against hg19 human genome. Genomic DNA from patients were sonicated into fragments. A DNA library from an individual was barcoded and used for generating the library for paired-end sequencing according to manufacturers' instruction for SureSelect XT Target Enrichment System for Illumina Paired-End Sequencing Library (Agilent). Reads were aligned in the reference genome with Burrows–Wheeler Aligner after filtering low quality reads. Single-nucleotide variants were then identified according to a previous report (15 (link)).