Whole Genome Sequencing (WGS) is a cutting-edge technology that allows for comprehensive profiling of the genome, providing a global view of genetic variations, mutations, and non-coding regions of DNA.
At GENXMAP, we specialize in sample preparation for WGS, tailoring each step of the process to the specific needs of your project. Library preparation is essential to ensure uniform coverage and accurate sequencing of the entire genome, whether from human, animal, or microbial DNA samples. Considering the unique objectives of each study, we ensure the selection of the most appropriate methods to obtain reliable and detailed results.
Our personalized approach to WGS spans a wide range of applications, from identifying rare mutations to population studies and research into genetic diseases.
Whole Genome Sequencing, Decoding the Blueprint of Life
Service Details
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We clearly define your scientific objectives to guide your study. Each approach is tailored to your needs to maximize the relevance and precision of the results.
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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 the gene panel or targeted regions: Based on your needs, we will discuss which specific regions to sequence, such as genes or exons, or whether to use 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 needed and the type of variant to detect (SNPs, CNVs, rare mutations), we will define the most suitable parameters.
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Budget calculation: Based on technological choices, sequencing depth, and the number of samples, an accurate budget will be provided.
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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 Check
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Visual evaluation for quantity and quality.
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Report sent to the client with a "Go / No-Go" decision for proceeding 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 difficult samples (e.g., FFPE tissues, rare cells).
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Quantification and Quality Assessment: Check the quantity and quality of extracted DNA/RNA using spectrophotometers and bioanalytical chips.
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Library Preparation: Fragmentation of DNA/RNA and addition of adapters for sequencing. For targeted sequencing, specific regions may be enriched (e.g., probe capture).
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Step 2 >> Sequencing Launch
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Depending on the chosen technology (Illumina, Oxford Nanopore), sequencing is carried out on the appropriate platform.
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Step 3 >> Real-Time Quality Control
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Monitoring of the sequencing process to ensure the absence of technical errors and maintain high-quality data generation.
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Step 4 >> Data Analysis
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We offer various levels of analysis: primary, secondary, or tertiary depending on your needs. We collaborate with our partners for different types of analyses, such as:
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Variant Identification: Calling genetic variants, such as SNPs, indels, CNVs, depending on the type of sequencing.
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Functional Annotation of Variants: Biological interpretation of variants using databases like dbSNP, COSMIC, ClinVar.
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Data Alignment: Using alignment software (e.g., BWA, Bowtie) to map reads against the reference genome.
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Quality Control of Data: Assessing the quality of generated reads, filtering out low-quality sequences.
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Step 5 >> Result 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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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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