WES was carried out by Macrogen Services (Republic of Korea). Exome libraries were constructed by hybridization capture with the Agilent SureSelect V4/V5/V6 Target Enrichment Kits (Agilent Technologies, Santa Clara, United States). WES was performed on the Illumina HiSeq4000/NovaSeq6000 platforms (Illumina, San Diego, United States), following the manufacturer’s recommendations. FASTQ sequencing files were aligned to the Human Reference Genome hg19 from UCSC (original GRCh37 from NCBI, Feb. 2009) applying Burrows-Wheeler Alignment Tool (BWA−0.7.12). Analysis proceeded using Picard (picard-tools-1.130) and Genome Analysis Toolkit (GATK3.v4). Finally, variant annotation was carried out applying SnpEff (SnpEff_v4.1g), dbSNP database (version 142), 1000Genomes phase 3, ClinVar database (version 05/2015) and ESP database (ESP6500SI_V2). Furthermore, in order to determine the coverage, coverage depth and the quality of the reads, bam files were analyzed using the Integrative Genomics Viewer (IGV) software (Broad Institute, University of California, United States).

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