Improved Efficiency and Reliability of NGS Amplicon Sequencing Data Analysis for Genetic Diagnostic Procedures Using AGSA Software

Figure 6

250 patients were studied for BRCA mutations by Access Array Fluidigm combined with 454 pyrosequencing and AGSA analysis. This sequencing methodology was compared to Sanger analysis in terms of percentage of amplicons to be reanalysed for BRCA1 (a) and BRCA2 (b), cost per patient (c), and time required to analyse 96 patients (d).

(a)

(b)

(c)

(d)