An Interlaboratory Assessment of Complex Variant Detection
using Multiplexed Positive Controls
Next-generation sequencing (NGS) is a capable and cost-effective technique for detecting single-nucleotide variants (SNVs) and small insertions or deletions (indels) in relatively accessible parts of the genome. However, conventional NGS, like Sanger sequencing, has well-known limitations with other variant types, including larger indels and complex alterations.
In this study, we explored one potential solution to this problem: the creation of a synthetic reference sample (SRS) in which multiple technically challenging variants are introduced into a known human genomic background.