Targeted sequencing is a powerful approach that allows for the specific exploration of regions of interest in the genome, offering precise and detailed analysis of genetic variants relevant to your research. At GENXMAP, we specialize in sample preparation for targeted sequencing, developing custom libraries that focus on specific genes or regions of interest. This method is particularly effective for studying genetic diseases, cancers, and complex traits, as it allows for rapid identification of critical mutations while reducing both cost and analysis time.
Our expertise in targeted sequencing ensures comprehensive and uniform coverage of the selected regions, ensuring accurate detection of variations. By tailoring the sample preparation process to the specific objectives of your project, we help you achieve actionable results.
With GENXMAP, you benefit from full support, from study design to bioinformatic analysis, enabling you to transform your data into meaningful insights and accelerate your scientific progress.
Decode What Matters, Unlock Key Insights
Service Details
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We clearly define your scientific objectives, such as detecting specific variants, analyzing precise genes, or other genomic regions of interest.
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Selection of the gene panel or targeted regions: Based on your needs, we will discuss the specific regions to be sequenced, such as genes or exons, or the use of a commercial or customized panel.
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Evaluation of available samples: The types of samples (extracted DNA, cells, tissues) and their quality will be assessed to determine their suitability for the project.
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Assessment of precision and coverage requirements: Depending on the necessary sequencing depth and the type of variant to be detected (SNP, CNV, rare mutations), we will define the most suitable parameters.
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Budget calculation: Based on technological choices, coverage depth, and the number of samples, a precise budget will be proposed.
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Estimation and scheduling of project timelines.
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High-Throughput Sequencing (Next-Generation Sequencing - NGS) GENXMAP utilizes the following platforms:
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NovaSeq (Illumina)
Advantages:
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Rapid and precise sequencing of large amounts of DNA from various environmental or biological sources.
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Provides high coverage and depth for accurate detection of microorganisms present.
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MiSeq (Illumina)
Advantages:
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High precision: Illumina’s sequencing-by-synthesis technology is known for its low error rate, making it ideal for analyses requiring high accuracy, such as genetic variation studies.
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Fast turnaround time: Short run times allow for timely results, essential for urgent projects.
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MinION and GridION (Oxford Nanopore Technology - ONT)
Advantages:
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Long reads: ONT generates ultra-long reads (up to several hundred kb), which are valuable for studying complex genomic regions, whole genomes, and full transcripts without fragmentation.
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Real-time data: Immediate analysis during sequencing, providing instant insights.
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Step 0 >> Sample Reception Check
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Visual assessment of quantity and quality
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Report sent to clients with a "Go / No-Go" decision on whether to proceed with the process
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Step 1 >> Sample Preparation
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DNA/RNA Extraction: Optimized protocols to ensure high-quality extraction, even from challenging sample types (FFPE tissues, rare cells, etc.).
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Quantification and Quality Assessment: Verification of DNA/RNA quantity and quality using spectrophotometers and bioanalytical chips.
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Exonic Region Enrichment: Biotinylated probes specifically bind to exonic regions via hybridization.
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Library Preparation (DNA/RNA): Fragmentation of DNA/RNA and addition of sequencing adapters. For targeted sequencing, specific region enrichment (e.g., probe capture) can be performed.
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Step 2 >> Sequencing Initiation
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Depending on the chosen technology (Illumina, Oxford Nanopore), sequencing is performed on the appropriate platform.
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Standard Targeted Sequencing for a predefined panel of genes or regions of interest.
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Step 3 >> Real-Time Quality Control
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Monitoring the sequencing process to ensure error-free execution and high-quality data generation.
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Step 4 >> Data Analysis
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We offer multiple levels of analysis (primary, secondary, or tertiary) based on your needs, in collaboration with our partners:
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Data Alignment: Using software (e.g., BWA, Bowtie) to map reads to the reference genome.
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Variant Calling: Identification of genetic variants, including SNPs, indels, CNVs, depending on the sequencing type.
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Functional Variant Annotation: Biological interpretation of variants using databases such as dbSNP, COSMIC, ClinVar.
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Data Quality Control: Assessment of read quality, removal of low-quality sequences.
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Step 5 >> Validation & Interpretation
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Result Interpretation: Identification of variants, mutations, SNPs
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Analysis Report: A detailed report including sequencing results, scientific interpretation, and recommendations.
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Step 6 >> Results Delivery
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Raw Data: FASTQ files containing raw sequence data.
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Bioinformatics Analyses: Variant tables with functional annotations.
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Scientific Report: Summary of significant variants, interpretation suggestions, and recommendations for further analysis.
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Explore Key Genes
Focus on specific genes or regions of the genome, providing precise insights for research on diseases, pharmacogenomics, and biomarker discovery.
Targeted sequencing
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Description: Sequencing of specific genes or regions of interest in the genome.
Applications:
Targeted studies on specific genes involved in diseases, pharmacogenomics, and biomarker discovery.
GENXMAP, your trusted partner to support you in your research.
Optimized and Transparent Services
Our Go/No-Go processes allow you to track the progress of your project in real-time. At each stage, you validate the transition to the next, ensuring complete control and maximum transparency throughout the entire process.
Our optimized timelines ensure fast and efficient execution of each project while meeting your specific requirements. This system ensures proactive time management, minimizing delays and maximizing productivity to deliver results that align with your expectations.
Our tailored processes are designed to meet the unique needs of each project, offering flexibility and personalized follow-up. This system ensures rigorous control while delivering accurate results that align with your expectations.
Our detailed analyses guarantee reliable and in-depth results tailored to each study. With cutting-edge tools and proven methodologies, we provide a precise understanding of genetic data, while adhering to the highest standards of quality and scientific rigor.
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