Overview of WES Pipeline
WES pipelines generally follow a similar process, regardless of the capture method and NGS platform used, as summarized in Fig. 2. The experimental pipeline can be divided into two parts: 1) preparing genomic DNA libraries and hybridizing them to capture arrays and 2) NGS of the eluted target fragments. There are a number of commercially available capture arrays, and their strengths and weaknesses have been well described elsewhere [3]. Once short sequencing reads have been generated, they are mapped to the reference human genome, and variant calling is carried out. Subsequent annotation of these variants is necessary to further evaluate their potential biological effect; publicly available software and databases can be used for this purpose.