Targeted sequencing works by preparing sequencing libraries that only cover selected regions of a genome. This approach is well suited for studying a defined panel of genes and can offer orders-of-magnitude improvements in efficiency over whole genome sequencing and whole exome sequencing.

This increased efficiency saves time and computing power, but also makes it possible to analyze the selected regions with very high depth of coverage. Increased sequencing depth helps to add reliability and to find rare mutations with a low variant allele frequency (VAF).

Oncology is one key area that benefits greatly from a targeted sequencing approach. Cancer panels that target mutation hotspots, oncogenes and tumor suppressor genes are highly beneficial to both research and clinical applications.

At Novus Genomics, we provide various target enrichment methods, such as hybridization-based target enrichment and PCR-based amplicon generation. We can also help you create a customized panel with your genes of interest. DNA from fresh tissue, formalin-fixed, paraffin-embedded (FFPE) tissue, blood, cell cultures, fine needle aspirates (FNAs) and many other samples can be used.

Library preparation kits

• Agilent SureSelect custom panels (hybridization-based)
• Twist custom panels (hybridization-based)
• Illumina AmpliSeq (amplicon-based, exclusions apply)

Sequencing platforms

• Illumina: NovaSeq 6000, HiSeq, MiSeq

Data analysis

Standard analysis

• alignment (read mapping to reference genome)
• variant calling (SNPs, indels)
• annotation to various databases

Advanced analysis

• population analysis
• virulotyping
• single guide RNA (sgRNA) analysis
• custom mapping, annotations, algorithms and analyses