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. 2020 Apr 5;6(2):32. doi: 10.3390/ijns6020032

Figure 1.

Figure 1

Hybrid Capture-Sequencing tNGS Workflow. Many components of the workflow may be automated: (a) DNA Isolation—This step in the workflow may be performed with two 3.2 mm DBS punches, takes 2 h (h) to perform and is an essential requirement of second tier testing as most tNGS protocols call for 2–10 mL of blood; (b) DNA hybrid Capture and Sequencing—DNA capture requires library preparation and bait based DNA hybridization-based capture of target regions, which is followed by DNA sequencing (Illumina MiniSeq). (c) Raw data management—Involves moving data across secure compliant environments for storage, processing and linking into databases; (d) Analysis, database and interpretation—Involves analysis for single nucleotide variants and copy number variant callers, comparative analysis with other database annotations, interpretation and reporting. This overall process takes ~35 h. Adapted from Bhattacharjee et al. [16].