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).

Note: The content above has been extracted from a research article, so it may not display correctly.

Please log in to submit your questions online.
Your question will be posted on the Bio-101 website. We will send your questions to the authors of this protocol and Bio-protocol community members who are experienced with this method. you will be informed using the email address associated with your Bio-protocol account.

We use cookies on this site to enhance your user experience. By using our website, you are agreeing to allow the storage of cookies on your computer.