Pure Target repeat Expansion
Our Pure Target Repeat Expansion Sequencing service, powered by the advanced Revio PacBio platform, offers unparalleled accuracy and resolution for analyzing repetitive regions in DNA.
This cutting-edge service is ideal for identifying, characterizing, and quantifying repeat expansions associated with various genetic disorders and other genomic features.
Key Features of Pure Target Repeat Expansion Sequencing
HiFi Read Accuracy:
Achieve >99.9% accuracy with PacBio HiFi reads, ensuring precise characterization of repeat expansions and their boundaries.
Long-Read Capability:
Effortlessly sequence long and complex repeat regions, including those exceeding 10 kb, without the need for assembly.
Direct Repeat Detection:
Detect and analyze repeat expansions directly, avoiding biases introduced by PCR or short-read technologies.
Epigenetic Insights:
Simultaneously detect DNA methylation patterns within repeat regions, providing insights into regulatory mechanisms.
Comprehensive Data:
Obtain detailed information on repeat size, zygosity, sequence variation, and flanking regions.
Applications of Pure Target Repeat Expansion Sequencing
Neurological Disorders
Benefits: Accurate characterization of disease-causing repeat expansions.
Example Use Cases: Huntington’s disease, Fragile X syndrome, myotonic dystrophy, and C9orf72-associated ALS/FTD.
Epigenetics
Benefits: Analysis of methylation patterns in and around repeat regions.
Example Use Cases: Investigating regulatory roles of repeats in gene expression.
Cancer Genomics
Benefits: Identifying repeat expansions associated with tumorigenesis and genomic instability.
Example Use Cases: Microsatellite instability (MSI) studies and somatic repeat expansion analysis.
Evolutionary Genomics
Benefits: Studying repeat variability and its role in genome evolution.
Example Use Cases: Comparative genomics of repeat regions across species.
Custom Target Regions
Benefits: Characterization of specific repeat loci relevant to custom research goals.
Example Use Cases: Development of novel diagnostics and understanding of unique repeat-associated phenotypes.
DNA Input Requirements for Pure Target Repeat Expansion Sequencing
The quality and quantity of input DNA are critical for accurate repeat expansion sequencing. Below is a table summarizing DNA input requirements based on target repeat length and application:
Neurological Disorders
Benefits: Accurate characterization of disease-causing repeat expansions.
Example Use Cases: Huntington’s disease, Fragile X syndrome, myotonic dystrophy, and C9orf72-associated ALS/FTD.
Epigenetics
Benefits: Analysis of methylation patterns in and around repeat regions.
Example Use Cases: Investigating regulatory roles of repeats in gene expression.
Cancer Genomics
Benefits: Identifying repeat expansions associated with tumorigenesis and genomic instability.
Example Use Cases: Microsatellite instability (MSI) studies and somatic repeat expansion analysis.
Evolutionary Genomics
Benefits: Studying repeat variability and its role in genome evolution.
Example Use Cases: Comparative genomics of repeat regions across species.
Custom Target Regions
Benefits: Characterization of specific repeat loci relevant to custom research goals.
Example Use Cases: Development of novel diagnostics and understanding of unique repeat-associated phenotypes.
Short (<1 kb)
Required DNA Amount: ≥ 50 ng
Purity (A260/A280): 1.8–2.0
Recommended QC Metrics: Clear band on gel electrophoresis; minimal smearing.
Notes: Suitable for smaller repeat loci or microsatellites.
Medium (1–5 kb)
Required DNA Amount: 100–200 ng
Purity (A260/A280): 1.8–2.0
Recommended QC Metrics: High-molecular-weight DNA with minimal degradation.
Notes: Ideal for most disease-associated repeat expansions.
Long (5–10 kb)
Required DNA Amount: 200–500 ng
Purity (A260/A280): 1.8–2.0
Recommended QC Metrics: Ultra-high-molecular-weight DNA (>10 kb preferred).
Notes: Best for long repeat expansions, including C9orf72 and myotonic dystrophy-associated repeats.
Very Long (>10 kb)
Required DNA Amount: 500–1000 ng
Purity (A260/A280): 1.8–2.0
Recommended QC Metrics: Intact DNA without fragmentation.
Notes: Required for extremely large repeats or complex loci with repetitive elements.
Advantages of Pure Target Repeat Expansion Sequencing with Revio PacBio
- Direct Analysis: No PCR amplification required, reducing biases and ensuring accurate repeat quantification.
- Comprehensive Insights: Obtain a complete view of repeat expansions, including sequence variation and epigenetic context.
- Flexibility: Customizable enrichment for targeting specific loci or regions of interest.
- High Sensitivity: Detect repeat expansions in mixed populations or low-abundance samples.
- End-to-End Solutions: From DNA QC to detailed bioinformatics analysis, we provide comprehensive support for your research.
Workflow Overview
Sample Preparation & QC
- Input DNA is assessed for concentration, purity, and integrity.
- High-molecular-weight DNA is preferred to ensure reliable sequencing of long repeats.
Target Enrichment
Enrichment methods are tailored to isolate specific repeat regions, ensuring focused and high-quality sequencing.
Library Preparation
HiFi library preparation optimized for long and repetitive sequences minimizes errors and bias.
Revio PacBio Sequencing
The Revio platform generates long, accurate reads, enabling direct repeat analysis.
Data Analysis
- Repeat expansion size determination.
- Zygosity analysis (homozygous vs. heterozygous expansions).
- Methylation profiling within repeat regions.
- Detailed annotation of flanking sequences and structural variations.
Get Started with Us
Our Pure Target Repeat Expansion Sequencing service delivers the highest accuracy and resolution for studying repetitive regions, enabling groundbreaking research in genetic disorders, cancer, epigenetics, and beyond. Contact us today to discuss your project requirements, receive a personalized quote, and explore how our Revio PacBio platform can accelerate your discoveries.
Gene Omics s.r.o.
Republikánská 1218/6, Lobzy, 312 00 Plzeň
IČ: 22273310
Contacts
info@geneomics.eu
+420 725 137 589
