Discover our Whole Exome Sequencing (WES) service at GENXMAP, designed to provide targeted and precise analysis of the coding regions of your DNA. By focusing on exons, which represent about 1% of the genome but contain the majority of disease-related variants, we enable you to quickly identify mutations relevant to your research or diagnostic studies. Our advanced technologies ensure uniform coverage and reliable results.
With GENXMAP, you benefit from a personalized approach to WES, tailored to your specific needs. Our experts support you at every step of the process, from sample preparation to bioinformatics analysis, ensuring actionable and meaningful results. By integrating cutting-edge methods and in-depth expertise, we help you transform your genetic data into crucial scientific and clinical discoveries.
Decode the Exome, Reveal the Essentials
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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WES, The Ultimate Precision
Complete exon sequencing for precise genetic analysis, facilitating the diagnosis and discovery of variants associated with rare and complex diseases. Comprehensive coverage and optimal reliability for confidently actionable results.
Whole Exome Sequencing (WES)
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Complete sequencing of all exonic regions of the genome.
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Utilizes extended capture technologies to cover all coding regions, followed by high-throughput sequencing to identify variants across the entire exome.
Applications:
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In-depth genetic studies to discover new variants associated with rare or complex diseases.
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Comprehensive genetic variation analysis in research and clinical diagnostics.
Service Details
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Identification of Research Objectives: You will explain your scientific goals, such as detecting specific variants, analyzing particular genes, or other genomic regions of interest.
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Selection of Gene Panel or Targeted Regions: Based on your needs, we will discuss the specific regions to sequence, such as genes or exons, or consider using a commercial or custom panel.
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Evaluation of Available Samples: The types of samples (extracted DNA, cells, tissues) and their quality will be discussed to determine their suitability for the project.
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Assessment of Precision and Coverage Requirements: Based on the sequencing depth required and the type of variant to detect (SNP, CNV, rare mutations), we will define the most suitable parameters.
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Budget Calculation: Based on the technological choices, depth of coverage, and number of samples, a precise budget will be proposed.
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Estimation and Planning of Completion Timelines.
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High-throughput sequencing (Next-Generation Sequencing - NGS) GENXMAP uses the following platforms:
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NovaSeq (Illumina)
Advantages:
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Fast and accurate sequencing of large amounts of DNA from various environmental or biological sources.
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Provides high coverage and depth for precise detection of present microorganisms.
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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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Rapid turnaround: Quick run times enable timely results for urgent projects.
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MinION and GridION (Oxford Nanopore Technology)
Advantages:
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Long reads: ONT allows for generating very long reads (up to several hundred kb), which is valuable for studying complex genomic regions, whole genomes, and full transcripts without fragmentation.
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Real-time data: Immediate analysis as sequencing occurs, providing instant insights.
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Step 0 >> Sample Reception Control:
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Visual evaluation of quantity and quality.
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Report sent to clients with "Go/No-Go" decision for continuing 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 difficult samples (FFPE tissues, rare cells, etc.).
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Quantification and Quality Assessment: Verification of quantity and quality of extracted DNA/RNA using spectrophotometers and bioanalytical chips.
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Exonic Region Enrichment: Biotinylated probes specifically bind to exonic regions through hybridization.
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DNA/RNA Library Preparation: DNA/RNA fragmentation and addition of adapters for sequencing. For targeted sequencing, enrichment of specific regions (e.g., probe capture) can be performed.
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Step 2 >> Sequencing Launch:
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Based on the chosen technology (Illumina, Oxford Nanopore), sequencing is performed on the appropriate platform.
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Standard Targeted Sequencing on a specific gene panel or predefined regions of interest.
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Step 3 >> Real-Time Quality Control:
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Monitoring of the sequencing process to ensure no technical errors and to maintain data quality.
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Step 4 >> Data Analysis:
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We offer different levels of analysis: primary, secondary, or tertiary, depending on your needs. Along with our partners, we provide various types of analyses such as:
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Data Alignment: Use of alignment software (e.g., BWA, Bowtie) to map reads against the reference genome.
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Variant Identification: Detection of genetic variants such as SNPs, indels, CNVs, depending on the sequencing type.
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Functional Annotation of Variants: Biological interpretation of variants using databases like dbSNP, COSMIC, ClinVar.
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Data Quality Control: Evaluation of the quality of generated reads, eliminating low-quality sequences.
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Step 5 >> Validation and Interpretation:
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Results Interpretation: Identification of variants, mutations, SNPs.
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Analysis Report: Preparation of a detailed report with sequencing results, scientific interpretation, and recommendations.
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Step 6 >> Results Delivery:
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Raw Data: FASTQ sequence files.
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Bioinformatics Analyses: Tables of identified variants with their functional annotations.
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Detailed Scientific Report: Summary of results with explanations of significant variants, suggestions for interpretation or additional analysis, and conclusions.
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