Table 1.

Selected applications of NGS

Sequencing applications	Examples	Selected references
Genomic variation	Clinical genetics, cancer analysis	24, 25
Coding and targeted resequencing	Mendelian genetics, rare variant detection, cancer sequencing	22, 23, 26, 53
RNA profiling	RNA-Seq for expression, alternative splicing and cancer analysis	58, 65
DNA methylation	Epigenetic profiling	36, 69
Active regulatory regions	Dnase-seq, FAIRE-Seq	59, 72
DNA-DNA interactions	Hi-C	70, 71
Protein-DNA interactions	Chip-Seq, Chia-PET	60, 73
Mutagenesis profiling	Functional profiling of proteins or DNA elements, ie, (promoters, enhancers)	64, 78, 79
Immunoprofiling	HLA, T-cell receptor profiling	61-63