Next-generation sequencing: advances and applications in cancer diagnosis

Figures & data

Figure 1 NGS workflow from nucleic acid extraction to variant annotation.

Abbreviation: NGS, next-generation sequencing.

Figure 2 Our approach to setting up a pipeline for SNV calling.

Abbreviations: SNV, single-nucleotide variant; GATK, Genome Analysis Toolkit; TVC, Torrent Suite variant caller; VCF, Variant Call Format.

Figure 3 Benefits obtained from the use of NGS methods in clinical molecular diagnostics.

Note: The introduction of the NGS in the clinical guidelines requires an improvement of some critical points shown in this figure.
Abbreviation: NGS, next-generation sequencing.