Overcoming technology-related pitfalls to ensure high performance of NGS assays
About
Over the past decade great advances have been made in sequencing technologies. However, many challenges still need to be addressed for an optimal assay design, data analysis and interpretation.
We present an overview of the key aspects considered during the development of SOPHiA GENETICS’ solutions. In particular, we demonstrate:
- Design of efficient data analytical workflows considering application type (germline or somatic), enrichment technology (amplicon versus hybridization capture) or sequencing instrument (variable noise).
- Translation of specific technical and biological aspects of the targeted regions, such as mitochondrial DNA or immunoglobulin genes, into optimal panel design
- Tackling challenging sequences – homopolymers, homologous regions, tandem repeats – to simplify data interpretation
By demonstrating how to account for, or overcome, the obstacles encountered at the level of technology and data analysis, we highlight that deliberate design choices ensure the most reliable results.