Targeted gene sequencing panels are useful tools for analyzing specific mutations in a given sample. Focused panels contain a select set of genes or gene regions that have known or suspected associations with the disease or phenotype under study. Gene panels can be purchased with preselected content or custom designed to include genomic regions of interest.
Next-generation sequencing (NGS) offers the scalability, speed, and resolution to evaluate targeted genes of interest. Multiple genes can be assessed across many samples in parallel, saving time and reducing costs associated with running multiple separate assays. Targeted gene sequencing also produces a smaller, more manageable data set compared to broader approaches such as whole-genome sequencing, making analysis easier.
The iSeq 100 System offers affordable, fast, and accessible sequencing power for targeted or small genome sequencing in any lab.
Predesigned panels contain important genes or gene regions associated with a disease or phenotype, selected from publications and expert guidance. By focusing on the genes most likely to be involved, these panels conserve resources and minimize data analysis considerations. Predesigned panels are available for research on various diseases, such as cancer, inherited disorders, cardiac conditions, and autism.
With custom designs, researchers can target regions of the genome relevant to their specific research interests. Custom targeted sequencing is ideal for examining genes in specific pathways, or for follow-up experiments from genome-wide association studies or whole-genome sequencing.
Illumina supports two methods for targeted sequencing: target enrichment and amplicon generation.
DesignStudio Software: An easy-to-use online software tool that provides dynamic feedback to optimize probe designs.
AmpliSeq for Illumina Custom Panels: Create custom targeted sequencing panels optimized for content of interest.
Nextera Rapid Capture Custom Enrichment Kit: Custom assay for enriching genomic regions of interest, with add-on functionality.
Target Enrichment |
Amplicon Sequencing |
| Larger gene content, typically > 50 genes | Smaller gene content, typically < 50 genes |
| More comprehensive profiling for all variant types | Ideal for analyzing single nucleotide variants and insertions/deletions (indels) |
| More comprehensive method, but with longer hands-on time and turnaround time* | More affordable, easier workflow |
* the turnaround time is for library prep assay time (DNA to finished library).
Next-generation sequencing (NGS) offers the scalability, speed, and resolution for targeted resequencing. Our Gene Panel and Array Finder will help you identify predesigned Illumina sequencing panels to match your genes of interest.
Find the Right Panel
Targeted cancer panels focus on a select set of genes or gene regions that have known associations with cancer. The deep coverage offered by targeted resequencing studies enables high sensitivity for rare variant calling. Learn more about targeted cancer panels.
Sequencing genes that have known involvement in certain disorders or conditions, such as autism or cardiovascular disease, can enable researchers to detect variants that contribute to inherited disorders. Learn more about genetic disease research.
HLA typing research with NGS generates phase-resolved results using a single assay, in contrast to conventional methods, which require multiple assays, systems, and analysis programs. Learn more about HLA sequencing.
Whole-exome and targeted sequencing identify ROBO1 and ROBO2 mutations as progression-related drivers in myelodysplastic syndromes.
Nat Commun 6 8806 2015
Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.
PLoS Genet 12 e1005816 2016
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.
J Cardiovasc Transl Res 9 3-11 2016
Dr Ravindra Kolhe discusses how TruSight Tumor 170 enables his lab to study many tumor-associated variants in a single assay.
Dr. Jonathan Pevsner discusses how his lab contributed to the development of a gene panel for autism research.
Researchers from the MGZ Medical Genetics Center use arrays and a gene panel to assess chromosomal abnormalities.
Study the expression effects of variants identified with targeted gene sequencing.
The v3 chemistry enables up to 15 Gb of output with 25 M sequencing reads and 2x300 bp read lengths.
Targeted NGS can identify myeloid-related genes with greater sensitivity than Sanger sequencing or cytogenetic methods.
A new enrichment-based cancer research assay interrogates both DNA and RNA, detecting small variants, gene amplifications, gene fusions, and splice variants.
The TruSight Oncology UMI Reagents and UMI Error Correction App reduce error rates in samples to ≤0.007%, enabling the detection of low frequency variants.