Focused panels targeting key genes

Sequence genes of interest to high depth with predesigned or custom panels

Targeted Gene Sequencing

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.

  • Sequences key genes or regions of interest to high depth (500–1000× or higher), allowing identification of rare variants
  • Provides cost-effective findings for studies of disease-related genes
  • Delivers accurate, easy-to-interpret results, identifying variants at low allele frequencies (down to 5%)
  • Enables confident identification of causative novel or inherited mutations in a single assay

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.

View Panels

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.

  • Target enrichment: Regions of interest are captured by hybridization to biotinylated probes and then isolated by magnetic pulldown. Target enrichment captures 20 kb–62 Mb regions, depending on the experimental design.
  • Amplicon sequencing: Regions of interest are amplified and purified using highly multiplexed oligo pools. This method allows researchers to sequence 26–1536 targets at a time, spanning 150–450 bp per target, depending on the library preparation kit used.

DesignStudio: An easy-to-use online software tool that provides dynamic feedback to optimize probe designs.

TruSeq Custom Amplicon Library Prep Kit: Fully customizable, amplicon-based assay for targeted resequencing.

Nextera Rapid Capture Custom Enrichment Kit: Custom assay for enriching genomic regions of interest, with add-on functionality.

Amplicon Sequencing: Learn more about this method, and find seamless workflow solutions.

Benefits of Target Enrichment vs. Amplicon Sequencing
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).

Gene Panel Finder

Next-generation sequencing (NGS) offers the scalability, speed, and resolution for targeted resequencing. Our Gene Panel Finder will help you identify predesigned Illumina sequencing panels to match your genes of interest.

Find the Right Panel
Gene Panel Finder
Cancer Gene Sequencing
Cancer Gene Sequencing

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 in all sample types, including formalin-fixed, paraffin-embedded (FFPE) tissue. Learn more about targeted cancer sequencing.

Inherited Condition Screening
Inherited Condition Screening

Sequencing genes that have known involvement in certain disorders or conditions, such as autism or cardiovascular disease, can detect variants that contribute to inherited disorders. NGS can reduce costs and shorten the time to answer compared to traditional, iterative approaches. Learn more about inherited condition screening with NGS.

HLA Sequencing
HLA Sequencing

Achieving high-resolution human leukocyte antigen (HLA) typing results with conventional methods requires multiple assays, multiple systems, and multiple analysis programs. In contrast, HLA typing research with NGS generates phase-resolved results using a single assay. 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

View Summary

Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.

PLoS Genet 12 e1005816 2016

View Summary

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.

J Cardiovasc Transl Res 9 3-11 2016

View Summary
Interested in receiving newsletters, case studies, and information on genomic analysis techniques? Enter your email address.
Targeted Gene Panels for Genetic Disease Studies
Targeted Gene Panels for Genetic Disease Studies

Dr. Kenjiro Kosaki uses targeted gene sequencing to further his clinical research on inherited disorders.

Access PDF
Development of a Sequencing Panel for Autism
Development of a Sequencing Panel for Autism Studies

Dr. Jonathan Pevsner discusses how his lab contributed to the development of a gene panel for autism research.

View Video
Analyzing Chromosomes Using Arrays and NGS
Analyzing Chromosomes Using Arrays and NGS

Researchers from the MGZ Medical Genetics Center use arrays and a gene panel to assess chromosomal abnormalities.

Access PDF
Targeted RNA Sequencing
Targeted RNA Sequencing

Study the expression effects of variants identified with targeted gene sequencing.

Learn More
Improved MiSeq Reagents
Improved MiSeq Reagents

The v3 chemistry enables up to 15 Gb of output with 25 M sequencing reads and 2x300 bp read lengths.

View Kits
NGS to Detect Blood Cancers
NGS to Detect Blood Cancers

Targeted NGS can identify myeloid-related genes with greater sensitivity than Sanger sequencing or cytogenetic methods.

Read Interview
Image
Removing Cancer's Veil: TruSight Tumor 170

A new enrichment-based cancer research assay interrogates both DNA and RNA, detecting small variants, gene amplifications, gene fusions, and splice variants.

View Video