Overview of steps in the generation of NGS data and analysis.

Abbreviations: NGS, next-generation sequencing; dbSNP, NCBI dbSNP Build 141, http://www.ncbi.nlm.nih.gov/projects/SNP/; 1000Genomes, 1000 Genomes Project, http://www.1000genomes.org/; EVS, Exome Variant Server, http://evs.gs.washington.edu/EVS/; ExAC, Exome Aggregation Consortium database, http://exac.broadinstitute.org/; KRDGB, Korean Reference Genome Database, http://152.99.75.168/KRGDB/menuPages/intro.jsp; SIFT, http://sift.jcvi.org/; PolyPhen-2, http://genetics.bwh.harvard.edu/pph2/; MutationTaster, http://www.mutationtaster.org/; Human splicing findinger, http://www.umd.be/HSF/; MaxEntScan, http://genes.mit.edu/burgelab/maxent/Xmaxentscan_scoreseq.html.