Targeted Resequencing
Introduction to Targeted Resequencing
With targeted resequencing, a subset of genes or regions of the genome are isolated and sequenced. Targeted approaches using next-generation sequencing (NGS) allow researchers to focus time, expenses, and data analysis on specific areas of interest. Such targeted analysis can include the exome (the protein-coding portion of the genome), specific genes of interest (custom content), targets within genes, or mitochondrial DNA.
Advance Your Research with the Methods Guide
This comprehensive guide covers a broad range of NGS methods, from targeted resequencing to RNA-Seq, targeted metagenomics, epigenetics, and more.
Affordable Sequencing With Focused Content
- Focuses on regions of interest, generating a smaller, more manageable data set
- Reduces sequencing costs and data analysis burdens
- Reduces turnaround time compared to broader approaches
- Enables deep sequencing at high coverage levels for rare variant identification
Compared to broader approaches, such as whole-genome sequencing, targeted sequencing is a more cost-effective method for investigating areas of interest. Targeted resequencing enables researchers to focus on regions that are most likely to be involved in the phenotype under study, conserving resources and generating a smaller, more manageable data set. Targeted approaches can also deliver much higher coverage levels, allowing identification of variants that are rare and more expensive with whole-genome or Sanger sequencing.
Using qPCR or Sanger sequencing today?
Find out how targeted sequencing can help you discover more.
How can I use NGS to analyze specific genes or DNA regions?
Explore common targeted NGS methods, from exome to amplicon sequencing and more.
How can I apply targeted NGS?
Discover, validate, or screen genetic variants with targeted sequencing for various research areas, from cancer to microbiology and more.
Explore uses of targeted NGSTargeted Resequencing Applications
Cancer Gene Sequencing
Targeted sequencing studies focus on a select set of genes or gene regions that have known associations with cancer. The deep coverage offered by targeted resequencing allows for higher sensitivity to call variants in rare tumor subclones accurately. Learn more about targeted cancer sequencing.
Rare Disease Targeted Sequencing
Targeted sequencing is a relatively inexpensive technique that interrogates known disease-causing genes. It is most effective for rare disease analysis when a specific condition or disease state is suspected. Learn more about rare disease targeted sequencing.
Complex Disease Research
Mendelian disorders can result from rare genetic variants. Exome sequencing allows targeted exploration of protein-coding regions of the genome to identify the rare variants that contribute to complex genetic diseases. Learn more about complex disease genomics.
Drug Development
In the future, targeted sequencing might be used to validate drug targets and confirm variants of interest for cancer treatment and other therapeutics. Learn more about NGS in drug development.
Mitochondrial Disease Research
Targeted NGS enables researchers to identify and analyze variants associated with mitochondrial disorders. Learn more about mitochondrial sequencing.
Bacterial Identification
Sequencing the bacterial 16S ribosomal RNA gene is a common amplicon sequencing method used to identify and compare bacteria present within a given sample. It is useful for studying complex microbiomes or environmental samples. Learn more about 16S rRNA sequencing.
Environmental DNA Sequencing
Environmental DNA (eDNA) sequencing is a rapidly emerging method for studying biodiversity and monitoring ecosystem changes. Learn more about eDNA sequencing.
Featured Targeted Sequencing Workflow: Custom Amplicon Sequencing
This key method uses ultra-deep sequencing of PCR amplicons to target specific genomic regions.
Content Selection
DesignStudio Assay Designer
This online tool makes it easy to optimize for target region coverage.
AmpliSeq for Illumina Custom DNA Panel
Create custom targeted sequencing panels optimized for content of interest.
Library Prep & Accessories
AmpliSeq for Illumina Library PLUS, Indexes & Accessories
Rapidly prepare amplicon libraries for Illumina sequencers.
Sequencing
iSeq 100 System
Affordable, fast, and accessible sequencing power for targeted or small genome sequencing in any lab.
MiniSeq System
Supports a broad range of targeted DNA and RNA applications.
Data Analysis
Local Run Manager (DNA Amplicon Analysis Module)
An on-premises software solution for creating sequencing runs, monitoring run status, and analyzing data.
DNA Amplicon app (on BaseSpace Sequence Hub)
Provides streamlined variant detection of amplicon panels.
Identify and Track Infectious Disease Threats
NGS supports effective genomic surveillance strategies to reduce infectious disease transmission. Targeted sequencing can be used to monitor zoonotic or respiratory pathogens.
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Additional Resources
Advancing Clinical Cancer Research
Targeted NGS enables cancer researchers to cost-effectively assess multiple genes in a single test.
Targeted Sequencing for HIV Studies
Researchers use targeted resequencing to detect minor variants associated with human immunodeficiency virus (HIV) tropism.
AmpliSeq for Illumina on the iSeq 100 System
Find step-by-step guidance designed to help you transition your workflows to AmpliSeq for Illumina panels on the iSeq 100 System.
Germline CNV Analysis
Download this Application Note to see a streamlined exome sequencing workflow for germline CNV analysis, from library preparation to insights using Illumina DNA Prep with Exome 2.5 Enrichment.