Key Applications and Methods
Targeted DNA sequencing enables researchers to focus on a select set of genes or relevant gene regions, enabling cost-effective and systematic variant detection. Next-generation sequencing (NGS) can be used to sequence many samples concurrently, increasing both the number of genes covered and the confidence in covering relevant genes.
Examples of targeted sequencing applications:
Assay Design & Library Prep
5-7 hours
AmpliSeq for Illumina Sequencing Solution
A highly multiplexed polymerase chain reaction (PCR)-based workflow for use with targets ranging from a few to hundreds of genes in a single run.
DesignStudio Software
Sequencing
17-32 hours
MiniSeq Reagent Kit
Bring the power of Illumina NGS to labs of all sizes. Access cost-efficient sequencing, even for low numbers of samples.
Data Analysis
< 2 hours
Local Run Manager
An on-premises software solution for creating sequencing runs, monitoring run status, and analyzing data.
BaseSpace Sequence Hub
The Illumina genomics cloud computing environment for NGS data analysis and management.
BaseSpace Variant Interpreter
Enables researchers to rapidly identify biologically significant variants from human genomic data.
Small genome sequencing provides comprehensive analysis of microbial or viral genomes for public health, epidemiology, and disease studies. Without requiring bacterial culture, researchers can sequence thousands of small organisms in parallel.
Unlike traditional approaches, small genome sequencing studies using NGS do not rely on labor-intensive cloning steps. Small genome DNA libraries can be prepared, sequenced, and analyzed in as little as 2 days. Sequence up to 50 small genomes per MiniSeq run.
Library Prep
1.5 hours
Nextera XT DNA Library Prep Kit
Prepare sequencing libraries for small genomes, PCR amplicons, and plasmids in less than 90 min, with a low DNA input requirement.
Illumina DNA Prep
A fast, integrated workflow for a wide range of applications, from human whole-genome sequencing to amplicons, plasmids, and microbial species.
Sequencing
~24 hours
MiniSeq Reagent Kit
Bring the power of Illumina NGS to labs of all sizes. Access cost-efficient sequencing, even for low numbers of samples.
Data Analysis
2–3 hours
Local Run Manager Resequencing
Automatically performs on-instrument data analysis. Aligns reads and performs variant analysis for whole-genome sequencing of small genomes.
TELLSeq App
Tell-Read and Tell-Link App links reads and creates assemblies for de novo WGS.
Estimated Cost Per Sample: $64*
*Small whole-genome sequencing on the MiniSeq System estimated cost per sample based on 5 Mb genome, 30x coverage, 2 x 150 bp read length, Nextera XT Library Prep Kit, MiniSeq Reagent High Output 300-cycle kit
Gene expression profiling using our MiniSeq targeted RNA sequencing (RNA-Seq) solution enables measurement of dozens to thousands of targets simultaneously. The MiniSeq System supports user-defined panels to target genes, isoforms, splice junctions, cSNPs, and fusion genes
Predefined panels of expert-selected content target major signal transduction pathways and cellular processes. Sequence 1 to 384 targeted RNA samples per MiniSeq run.
Assay Design & Library Prep
1.5 days
TruSeq Targeted RNA Expression Library Prep Kits
Targeted RNA assays for gene expression studies: custom or predesigned sequencing panels.
Sequencing
~7 hours
MiniSeq Reagent Kit
Bring the power of Illumina NGS to labs of all sizes. Access cost-efficient sequencing, even for low numbers of samples.
Data Analysis
~1 hour
Local Run Manager Targeted RNA Analysis
Automatically performs on-instrument data analysis for RNA samples. Aligns reads, quantifies relative expression.
BaseSpace TruSeq Targeted RNA App
Browse sample datasets in BaseSpace Sequence Hub:
MiniSeq Targeted RNA Data
Estimated Cost Per Sample: $23*
*Targeted RNA sequencing on the MiniSeq System estimated cost per sample based on 65 targets, 1000x coverage, 1 x 50 bp read length, TruSeq Targeted RNA Expression custom panel kit, MiniSeq Reagent High Output 75-cycle kit
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More Applications and Methods
Germline Mutation Analysis
Germline mutations play an important role in cancer risk and susceptibility. Targeted sequencing enables accurate identification of cancer-predisposing variants.
Application Note
Small RNA Discovery and Profiling
Isolate and sequence small RNA species, such as microRNA. Study the role of noncoding RNA in gene silencing and posttranscriptional regulation.
Application Note
16S Metagenomic Sequencing
A culture-free method to identify and compare bacteria from complex microbiomes or environments that are difficult to study.
Genotyping by Sequencing
Genotyping by sequencing provides a low-cost genetic screening method to discover novel plant and animal SNPs and perform genotyping studies.
Infectious Disease Detection and Analysis
Find powerful, comprehensive NGS-based solutions for detecting and characterizing COVID-19, respiratory pathogens, antimicrobial resistance, and more.
Application Note
De Novo Sequencing
De novo sequencing with next-generation sequencing (NGS) enables fast, accurate characterization of species without a reference genome.
Application Note
TELL-Seq: Bringing Speed and Accuracy to Long-Range Sequencing
Methods Guide
Access the information you need—from BeadChips to library preparation for genome, transcriptome, or epigenome studies to sequencer selection, analysis, and support—all in one place. Select the best tools for your lab with our comprehensive guide designed specifically for research applications.
Access Guide