Fig. 1. Workflow for NEOseq_ACTION testing. Genomic DNA is isolated from DBSs, which are commonly used for neonatal screening. Libraries are prepared using the Nextera kit (Illumina, San Diego, CA, USA). The target DNA is enriched using the Twist Bioscience capture kit (Twist Bioscience, South San Francisco, CA, USA) and sequenced on the MiSeq platform (Illumina). Secondary analysis and variant interpretation are carried out using the MedyCVi (MedySapiens, Seoul, Korea) bioinformatics pipeline. Variant pathogenicity is predicted using the MedyCVi module, MedyPatho (MedySapiens). The time from DNA extraction to medical intervention was 3.4 days.
Abbreviations: DBS, dried blood spot; BWA, Burrows–Wheeler aligner; GATK, genome analysis tool kit; BAM, binary alignment map; VCF, variant call format.

Ann Lab Med 2023;43:280~289 https://doi.org/10.3343/alm.2023.43.3.280