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.
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.
Disease to Gene Finder Tool: Search by disease and find a ranked list of associated genes to help you design your custom panel or microarray.
Nextera Rapid Capture Custom Enrichment Kit: Custom assay for enriching genomic regions of interest, with add-on functionality.
|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).
Switching from Sanger to targeted sequencing using NGS helped researchers in Milan unlock data about variants tied to neurological and metabolic disordersRead Interview
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