Table 1

Selected applications of NGS

Sequencing applicationsExamplesSelected 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  
Sequencing applicationsExamplesSelected 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  
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