Verified Service Provider in Mozambique
Genomics Core Facilities in Mozambique
Engineering Excellence & Technical Support
Genomics Core Facilities solutions for Research & Discovery (R&D). High-standard technical execution following OEM protocols and local regulatory frameworks.
Next-Generation Sequencing (NGS) Platform
Empowering cutting-edge genomic research with our state-of-the-art NGS platform, enabling high-throughput sequencing for variant discovery, transcriptomics, and epigenomics, driving innovation in disease research and agricultural genomics.
Genomic Data Analysis & Bioinformatics Hub
Providing robust bioinformatics support and computational infrastructure for the analysis of complex genomic data, translating raw sequences into actionable insights and fostering data-driven discoveries for public health and biodiversity initiatives.
Capacity Building & Collaborative Research
Strengthening local scientific expertise through comprehensive training programs and fostering collaborative partnerships, building a sustainable genomics ecosystem in Mozambique to address national health challenges and unlock unique biological resources.
What Is Genomics Core Facilities In Mozambique?
Genomics Core Facilities in Mozambique are specialized research infrastructure units that provide centralized access to advanced genomic technologies, expert technical support, and data analysis services. These facilities are instrumental in advancing biological and biomedical research within the country by democratizing access to sophisticated genomic tools that might otherwise be prohibitively expensive or technically challenging for individual research groups to acquire and maintain. The service involves a spectrum of activities, including sample processing, DNA/RNA extraction, library preparation for various sequencing platforms (e.g., Illumina, Nanopore), high-throughput sequencing, genotyping, and subsequent bioinformatics analysis. They operate on a fee-for-service model or are supported by institutional funding, ensuring reproducibility and standardization of genomic experiments across diverse research endeavors.
| Who Needs Genomics Core Facilities? | Typical Use Cases | ||||||
|---|---|---|---|---|---|---|---|
| Academic Researchers: University-based scientists investigating fundamental biological processes, disease mechanisms, and evolutionary biology. | Public Health Institutions: Organizations involved in infectious disease surveillance, outbreak investigation, and monitoring antimicrobial resistance. Examples include identifying pathogens, tracing transmission routes, and characterizing virulence factors. | Agricultural Research Scientists: Researchers focused on crop improvement, livestock breeding, and understanding genetic basis of traits for enhanced food security and agricultural productivity. Examples include marker-assisted selection, genetic diversity assessment, and genome-wide association studies (GWAS) for desirable traits. | Clinical Researchers and Healthcare Providers: Investigating genetic predispositions to diseases, pharmacogenomics, and identifying genetic biomarkers for diagnosis and prognosis. This can include research into inherited disorders, cancer genomics, and personalized medicine approaches. | Environmental Scientists: Studying biodiversity, population genetics of endangered species, and the impact of environmental factors on genetic makeup of organisms. | Biotechnology and Pharmaceutical Companies (if present): For drug discovery, target validation, and development of novel diagnostic tools. | Government Agencies: Involved in policy development related to public health, agriculture, and conservation, utilizing genomic data for evidence-based decision-making. | |
| Pathogen Identification and Characterization: Sequencing genomes of bacteria, viruses, and parasites to identify novel strains, understand their evolution, and track outbreaks (e.g., malaria, tuberculosis, HIV, COVID-19). | Antimicrobial Resistance (AMR) Surveillance: Identifying resistance genes and mechanisms in microbial populations to inform public health interventions and drug development. | Population Genomics of Infectious Diseases: Studying the genetic diversity and population structure of pathogens to understand transmission dynamics and predict disease spread. | Genetic Basis of Local Crop Traits: Identifying genes responsible for drought tolerance, pest resistance, and nutritional value in staple crops relevant to Mozambique. | Livestock Improvement: Understanding genetic variation in local livestock breeds for enhanced productivity, disease resistance, and adaptation to local environments. | Human Genetic Studies: Investigating the genetic underpinnings of prevalent diseases in Mozambique, such as sickle cell anemia, and understanding human adaptation to local environments. | Conservation Genomics: Assessing genetic diversity and population structure of endangered or endemic species for effective conservation strategies. | Metagenomics: Studying microbial communities in various environments (e.g., soil, water, gut) to understand their function and ecological roles. |
Key Components of Genomics Core Facilities Services:
- Sample Preparation and Quality Control: Ensuring the integrity and quantity of nucleic acid samples through standardized extraction protocols and rigorous quality assessment (e.g., Qubit, Bioanalyzer).
- Library Construction: Preparing diverse types of sequencing libraries tailored to specific applications, including whole-genome sequencing (WGS), whole-exome sequencing (WES), RNA sequencing (RNA-Seq), ChIP-sequencing (ChIP-Seq), and amplicon sequencing.
- High-Throughput Sequencing: Offering access to state-of-the-art sequencing platforms with varying read lengths, throughput capacities, and accuracy profiles to meet diverse research needs.
- Genotyping Services: Providing solutions for single nucleotide polymorphism (SNP) genotyping, copy number variation (CNV) analysis, and other targeted genotyping applications.
- Bioinformatics and Data Analysis: Delivering computational support for raw data processing, alignment, variant calling, differential gene expression analysis, phylogenetic analysis, and other downstream genomic analyses.
- Consultation and Training: Offering expert advice on experimental design, protocol optimization, and providing training to researchers on the use of genomic technologies and data interpretation.
Who Needs Genomics Core Facilities In Mozambique?
Genomics core facilities are essential for advancing scientific research and diagnostics in Mozambique. These facilities provide access to cutting-edge technologies, expertise, and infrastructure that are often beyond the reach of individual research groups or smaller institutions. They play a critical role in supporting a diverse range of scientific endeavors, from understanding local disease patterns to developing agricultural solutions and conserving biodiversity.
| Customer Segment | Key Departments/Units | Primary Genomics Needs | Potential Applications |
|---|---|---|---|
| Academic and Research Institutions | Biology Departments, Medical Schools, Public Health Schools, Agricultural Colleges, Veterinary Science Departments | Next-Generation Sequencing (NGS) for genomics, transcriptomics, metagenomics; Sanger sequencing; Genotyping; Bioinformatics support | Disease surveillance and pathogen identification, understanding genetic basis of local diseases, crop and livestock improvement, biodiversity studies, evolutionary biology research |
| Healthcare and Public Health Sector | National Public Health Laboratories, Disease Surveillance Units, Hospitals (clinical pathology and research departments), Medical Research Institutes | Diagnostic sequencing (e.g., for infectious diseases, inherited disorders), SNP genotyping for pharmacogenomics, microbial genomics for outbreak investigations, population genetics for disease risk assessment | Rapid identification of infectious agents, tracking disease outbreaks, personalized medicine initiatives, understanding genetic predispositions to common diseases, monitoring drug resistance |
| Agricultural Research and Development | National Agricultural Research Institutes, Crop Improvement Programs, Livestock Breeding Programs, Food Security Agencies | Genomic selection for crop and livestock traits, marker-assisted selection, pest and disease resistance gene identification, soil microbiome analysis | Developing climate-resilient crops, improving yields of staple crops, enhancing livestock productivity and disease resistance, understanding and managing soil health |
| Environmental and Conservation Agencies | National Parks and Wildlife Authorities, Environmental Research Institutes, Biodiversity Centers | DNA barcoding for species identification, environmental DNA (eDNA) analysis for biodiversity monitoring, population genetics for conservation management, phylogenomics for understanding evolutionary history | Monitoring endangered species, detecting invasive species, assessing ecosystem health, informing conservation strategies, understanding evolutionary relationships of local flora and fauna |
| Biotechnology and Pharmaceutical Companies (emerging) | Local startups, potential international collaborations | Drug discovery support, biomarker identification, contract research services | Developing novel diagnostics or therapeutics, validating drug targets, supporting clinical trials |
Target Customers and Departments for Genomics Core Facilities in Mozambique
- Academic and Research Institutions
- Healthcare and Public Health Sector
- Agricultural Research and Development
- Environmental and Conservation Agencies
- Biotechnology and Pharmaceutical Companies (emerging)
Genomics Core Facilities Process In Mozambique
Genomics core facilities in Mozambique, while still developing, follow a general workflow from initial inquiry to the final execution of genomic analyses. This process is crucial for research institutions, government agencies, and healthcare providers seeking advanced molecular insights for various applications, including disease surveillance, agricultural development, and biodiversity studies. The workflow is designed to be standardized, ensuring data quality and efficient resource utilization.
| Stage | Key Activities | Key Deliverables/Outputs | Responsible Parties |
|---|---|---|---|
| Inquiry and Consultation | Contacting facility, discussing research needs, feasibility assessment, cost estimation. | Initial project scope definition, preliminary advice. | User, Core Facility Staff (e.g., Scientific Manager, Bioinformatician) |
| Project Planning and Proposal Development | Detailed experimental design, budget finalization, ethical review, data management plan. | Formal project proposal, budget approval. | User, Core Facility Staff |
| Sample Submission and QC (Pre-processing) | Sample collection, preservation, shipping, arrival inspection, initial quality assessment. | Accepted samples, preliminary QC report. | User, Core Facility Staff (e.g., Lab Technicians) |
| Nucleic Acid Extraction and QC | DNA/RNA extraction, purity and integrity assessment. | Extracted DNA/RNA, QC data (concentration, purity, integrity). | Core Facility Staff (Lab Technicians) |
| Library Preparation | Adapter ligation, barcoding, amplification (if needed). | Sequencing-ready libraries. | Core Facility Staff (Lab Technicians) |
| Sequencing | Loading libraries, running sequencing instrument, data generation. | Raw sequencing data (FASTQ files). | Core Facility Staff (Sequencing Specialists) |
| Data Processing and QC (Post-sequencing) | Adapter trimming, quality filtering, alignment/assembly. | QC reports, aligned reads, or assembled genomes/transcriptomes. | Core Facility Staff (Bioinformaticians) |
| Bioinformatics Analysis | Variant calling, gene expression analysis, statistical analysis, visualization. | Interpreted data, statistical outputs, figures. | Core Facility Staff (Bioinformaticians), User |
| Data Reporting and Deliverables | Compiling reports, formatting data, providing raw and processed data. | Final project report, data files, visualizations. | Core Facility Staff (Bioinformaticians, Project Managers) |
| Project Closure and Follow-up | Finalizing project, data archiving, post-analysis support. | Project closure confirmation, archived data. | Core Facility Staff, User |
Genomics Core Facilities Workflow in Mozambique
- Inquiry and Consultation: This initial stage involves a potential user (researcher, clinician, etc.) contacting the core facility with a research question or a need for genomic analysis. A consultation session is scheduled to understand the project's scope, objectives, required sample types, desired assays, and expected timelines. This meeting is vital for determining feasibility, estimating costs, and providing preliminary guidance on experimental design.
- Project Planning and Proposal Development: Based on the consultation, a detailed project proposal is developed collaboratively. This proposal outlines the specific genomic services required (e.g., DNA extraction, library preparation, sequencing, bioinformatics analysis), the experimental plan, required reagents and consumables, estimated budget, and a projected timeline. Ethical considerations and data management plans are also addressed.
- Sample Submission and Quality Control (Pre-processing): Once the proposal is approved and funding secured, the user is guided on proper sample collection, preservation, and submission protocols. Samples are rigorously checked upon arrival at the facility for quantity, quality (e.g., using spectrophotometry, gel electrophoresis), and integrity. Any samples failing quality control may require re-collection or additional processing.
- DNA/RNA Extraction and Quality Control: The core facility performs nucleic acid extraction from the submitted samples using standardized protocols. The extracted DNA or RNA is then subjected to further quality control measures to ensure purity and integrity, which are critical for downstream genomic applications. This often involves assays like NanoDrop for concentration and purity, and Qubit or Bioanalyzer for fragment size and integrity.
- Library Preparation: Depending on the chosen genomic application (e.g., whole-genome sequencing, targeted sequencing, transcriptomics), specialized libraries are prepared from the extracted nucleic acids. This involves a series of enzymatic reactions to add adapters, barcodes (for multiplexing), and other necessary components for sequencing.
- Sequencing: The prepared libraries are loaded onto high-throughput sequencing platforms. The choice of sequencing platform (e.g., Illumina, Nanopore) depends on the project's requirements for read length, throughput, and cost-effectiveness. Sequencing runs are carefully monitored to ensure optimal performance.
- Data Processing and Quality Control (Post-sequencing): Raw sequencing data is processed through a series of quality control steps. This includes adapter trimming, quality filtering, and alignment to a reference genome or de novo assembly, depending on the application. Metrics are generated to assess the quality and coverage of the sequencing data.
- Bioinformatics Analysis: This is a crucial step where raw sequencing data is transformed into meaningful biological insights. Depending on the project, analyses can include variant calling, gene expression analysis, genome assembly, metagenomic analysis, and other sophisticated computational approaches. Interpretation of results is often a collaborative effort between the core facility's bioinformaticians and the user.
- Data Reporting and Deliverables: The final results of the genomic analysis are presented to the user in a comprehensive report. This report typically includes raw data files, processed data, analysis summaries, visualizations (e.g., graphs, heatmaps), and an interpretation of the findings in the context of the original research question. The format of deliverables is usually agreed upon during the project planning phase.
- Project Closure and Follow-up: After the delivery of results, the project is formally closed. The core facility may offer follow-up support for understanding the data or planning future experiments. Data archiving and long-term storage policies are also adhered to.
Genomics Core Facilities Cost In Mozambique
Genomics core facilities in Mozambique are essential for advancing research and diagnostics. Their cost is influenced by a variety of factors, making it challenging to provide a single definitive price range. These factors include the type of genomic service offered (e.g., sequencing, genotyping, bioinformatics analysis), the technology platforms used (e.g., Sanger, Illumina, PacBio), the complexity and depth of the analysis required, sample preparation needs, and the operational overhead of the facility itself, such as staff expertise, equipment maintenance, and consumables. Pricing is typically denominated in the local currency, the Mozambican Metical (MZN). While specific pricing details are often proprietary and subject to negotiation, general ranges can be estimated based on common service types. For instance, basic DNA sequencing services might start from a few thousand Meticais per sample, with costs escalating significantly for whole-genome sequencing, specialized applications like single-cell genomics, or extensive bioinformatics support. The availability of funding, whether from research grants, institutional budgets, or external collaborations, also plays a crucial role in how services are priced and accessed. Facilities may offer tiered pricing based on the volume of work, or discounted rates for academic institutions compared to commercial entities.
| Service Category | Estimated Price Range (MZN) | Notes |
|---|---|---|
| Basic DNA Sequencing (Sanger, per kb) | 3,000 - 8,000 | Fragment length and quality dependent |
| Next-Generation Sequencing (NGS) - Targeted Panel (e.g., exome, gene panel) | 20,000 - 100,000+ per sample | Depends on panel size, sequencing depth, and platform |
| Next-Generation Sequencing (NGS) - Whole Genome Sequencing (WGS) | 80,000 - 300,000+ per sample | Coverage depth and platform are major cost drivers |
| Genotyping (e.g., SNP arrays) | 10,000 - 50,000+ per sample | Array density and customizability influence price |
| Bioinformatics Analysis (per project/hour) | 5,000 - 25,000+ | Complexity of analysis, data volume, and required expertise |
| RNA Sequencing (RNA-Seq) | 30,000 - 150,000+ per sample | Library preparation, sequencing depth, and organism complexity |
Key Pricing Factors for Genomics Core Facilities in Mozambique
- Type of Genomic Service (e.g., Sequencing, Genotyping, Bioinformatics)
- Technology Platforms Used (e.g., Illumina, PacBio, Sanger)
- Complexity and Depth of Analysis
- Sample Preparation Requirements
- Staff Expertise and Bioinformatics Support
- Equipment Maintenance and Consumables
- Facility Operational Overhead
- Volume of Work (Tiered Pricing)
- Client Type (Academic vs. Commercial)
- Funding Availability and Grant Support
Affordable Genomics Core Facilities Options
Accessing advanced genomic technologies is crucial for research and development. However, the cost of setting up and maintaining in-house genomics core facilities can be prohibitive for many institutions. Fortunately, affordable options exist. These often involve leveraging external core facilities, either through shared institutional resources, regional consortia, or commercial service providers. The key to affordability lies in smart utilization, understanding value bundles, and implementing effective cost-saving strategies.
| Strategy | Description | Benefits | Considerations |
|---|---|---|---|
| Value Bundles | Core facilities often offer bundled services that combine multiple steps of a genomic workflow (e.g., library preparation + sequencing + basic analysis) at a discounted rate compared to purchasing each service individually. | Reduced per-unit cost, streamlined workflow, simplified budgeting, predictable outcomes. | Ensure the bundle meets your specific project needs; compare bundled prices with à la carte options if possible; understand what is included in basic analysis. |
| Volume Discounts | For projects requiring large numbers of samples or extensive sequencing, negotiating volume discounts with core facilities or service providers can significantly lower the overall cost. | Lower cost per sample/run, encourages larger-scale projects. | Requires commitment to a certain volume; discuss pricing tiers in advance. |
| Standardized Protocols | Adhering to the core facility's standardized protocols for sample submission and preparation can minimize processing errors and re-runs, saving both time and money. | Reduced errors, faster turnaround times, lower potential for costly repeat experiments. | May require adjusting your experimental design to fit the core's requirements; communicate any deviations early on. |
| Data Analysis Options | Understand the different levels of data analysis offered. Basic bioinformatics support might be included, while advanced custom analysis may incur additional charges. Choose the level that best suits your budget and expertise. | Cost control for bioinformatics, focus on research rather than intensive data wrangling. | Assess your internal bioinformatics capacity; clarify what 'basic' or 'standard' analysis entails; plan for potential needs for custom analysis. |
| Collaborative Funding & Grants | Leveraging institutional grants, collaborative research grants, or specific core facility funding programs can offset direct costs. | Access to advanced technologies without direct financial burden, opportunities for inter-institutional collaboration. | Requires grant writing expertise, alignment with funding priorities, and potential administrative overhead. |
| Prioritization & Scheduling | Planning your projects in advance and scheduling with core facilities can help secure access during off-peak times or leverage lower-cost slots, if available. | Potential for cost savings on certain services or equipment, ensures timely project completion. | Requires good project management and lead time; flexibility in scheduling may be needed. |
Key Affordable Genomics Core Facility Options
- Institutional Core Facilities: Many universities and research institutes operate their own core facilities. These are often subsidized by the institution, making them more affordable for internal users. They can offer a range of services from sample preparation to complex sequencing and analysis.
- Regional Consortia & Shared Resources: Collaborating with neighboring institutions or forming regional consortia can create shared access to specialized equipment and expertise. This distributes costs and expands the range of available technologies.
- Commercial Genomics Service Providers: Companies specializing in genomics services offer a pay-as-you-go model. While individual services might seem expensive, their efficiency, specialized equipment, and economies of scale can make them cost-effective for certain projects, especially when compared to the capital investment and operational costs of an in-house facility.
- Hybrid Models: Combining internal expertise with external services can be a strategic approach. For routine tasks, an in-house facility might be efficient, while for highly specialized or high-throughput needs, outsourcing to a commercial provider can be more economical.
Verified Providers In Mozambique
In Mozambique's evolving healthcare landscape, identifying trustworthy and competent medical service providers is paramount. Verified providers, particularly those with strong credentials like Franance Health, offer a significant advantage to individuals seeking reliable healthcare. This document outlines why Franance Health stands out as a leading choice, supported by their verifiable credentials and commitment to excellence.
| Credential Type | Verification Standard | Franance Health's Commitment |
|---|---|---|
| Professional Licensing & Certification | Mandatory governmental and professional body accreditation | Strict adherence to all licensing requirements, with regular audits to ensure ongoing compliance for all practitioners. |
| Educational Qualifications | Recognition of degrees and diplomas from accredited medical institutions | Thorough vetting of academic backgrounds and professional training of all affiliated healthcare providers. |
| Experience & Specialization | Demonstrated practical experience and recognized expertise in specific medical fields | Prioritization of providers with proven track records and specialized skills relevant to patient needs. |
| Ethical Practice & Patient Safety | Adherence to medical ethics codes and established patient safety protocols | Implementation of robust protocols for patient safety and a strong emphasis on ethical conduct and patient rights. |
| Facility Standards | Compliance with health and safety regulations for medical facilities | Partnership with facilities that meet high standards of hygiene, equipment maintenance, and emergency preparedness. |
Why Franance Health is the Best Choice:
- Rigorous Verification Process: Franance Health undergoes a stringent verification process, ensuring all affiliated healthcare professionals and facilities meet high standards of quality, safety, and ethical practice.
- Credentialed Healthcare Professionals: All doctors, nurses, and specialists associated with Franance Health are fully licensed, certified, and possess recognized qualifications from reputable institutions.
- Commitment to Patient Care: Beyond technical proficiency, Franance Health emphasizes a patient-centered approach, prioritizing empathy, clear communication, and individualized treatment plans.
- Access to Advanced Facilities and Technology: Franance Health partners with modern healthcare facilities equipped with up-to-date medical technology, enabling accurate diagnosis and effective treatment.
- Transparent Operations: The organization promotes transparency in its services, pricing, and operational procedures, fostering trust and empowering patients to make informed decisions.
- Continuous Quality Improvement: Franance Health is dedicated to ongoing evaluation and improvement of its services, staying abreast of medical advancements and best practices.
- Specialized Care Options: They offer a comprehensive range of medical services, catering to diverse healthcare needs, from general consultations to specialized treatments.
Scope Of Work For Genomics Core Facilities
This Scope of Work (SOW) outlines the technical deliverables and standard specifications for services provided by the Genomics Core Facilities. The aim is to ensure consistent, high-quality data generation and reporting to support a wide range of research projects.
| Service Category | Technical Deliverable | Standard Specification (Minimum Requirements/Typical Outputs) | Reporting Requirements | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NGS Library Preparation | DNA/RNA libraries for Illumina platforms | Input DNA/RNA: ≥ 10 ng (TruSeq stranded mRNA/polyA) or ≥ 50 ng (gDNA) | Library size distribution: Typically 200-500 bp (fragmentation dependent) | Adapter ligation efficiency: ≥ 90% | Post-PCR amplification: Optimized cycles to achieve desired yield | Library QC report: Bioanalyzer/TapeStation profile, concentration (Qubit/PicoGreen) | Raw sequencing reads (FASTQ files) | Base quality scores (Phred scores) | Sequence length | Adapter content report | Data processing and QC reports (e.g., FastQC, MultiQC) | Alignment statistics (e.g., to reference genome/transcriptome) | Variant calling reports (if applicable) | Differential expression analysis results (if applicable) | Summary statistics and QC metrics |
| NGS Sequencing | Raw sequencing data (FASTQ) | Platform: Illumina NovaSeq/HiSeq/MiSeq (or specified) | Read length: e.g., 150 bp paired-end (PE) | Target sequencing depth: e.g., 30x coverage for whole genome, 50-100M reads for RNA-seq | Sequencing quality: ≥ Q30 for >80% of bases | Demultiplexed FASTQ files with sample barcodes | |||||||||
| Single-cell RNA Sequencing (scRNA-seq) | Single-cell gene expression matrices | Platform: e.g., 10x Genomics Chromium | Library preparation: Single-cell 3' or 5' gene expression | Target cell recovery: e.g., 5,000-10,000 cells per sample | Sequencing depth: e.g., 20,000-50,000 reads per cell | Outputs: Gene x Cell UMI count matrix | Cellranger pipeline output files | QC metrics per cell (e.g., number of genes detected, total UMI counts, percentage of mitochondrial genes) | UMAP/t-SNE plots showing cell clustering | Differential gene expression analysis between identified clusters | |||||
| Long-Read Sequencing | High-quality long reads (FASTQ) | Platform: e.g., PacBio HiFi, Oxford Nanopore | Read length: Mean read length > 10 kb (HiFi) | Accuracy: > Q20 (HiFi) | Outputs: De novo assembly (if requested), variant calling, transcript isoform identification | Raw sequencing data (FASTQ/BAM) | Assembly statistics (N50, contig count) | Variant calling reports | |||||||
| Genotyping & SNP Arrays | Genotype calls (VCF/TXT) | Platform: e.g., Illumina Infinium arrays | Call rate: ≥ 98% per sample | SNP concordance: ≥ 98% against known controls | Outputs: Genotype calls for specified SNPs | Genotype calls in standard formats (e.g., VCF, PLINK) | Sample QC report (e.g., call rate, heterozygosity, sample contamination) | SNP QC report (e.g., call rate, Hardy-Weinberg equilibrium) | |||||||
| qPCR/dPCR | Quantitative gene expression data | Target: Specific gene targets | Assay validation: Validated primer/probe sets | Replicates: Minimum of triplicate technical replicates | Outputs: Relative or absolute quantification of target nucleic acids | Raw Ct values or absolute quantification data | Standard curves (for absolute quantification) | Amplification plots | Efficiency and R-squared values for assays | Data normalization (if applicable) | Statistical analysis of results | ||||
| Bioinformatics Analysis | Processed and analyzed genomic data | QC reports: Comprehensive data quality assessment | Alignment/Assembly reports | Variant Annotation: Functional impact prediction | Differential Expression/Abundance analysis: Statistical significance, fold-change | Pathway/GO enrichment analysis | Custom analysis scripts and pipelines (documented) | Final analysis report summarizing findings | Figures and visualizations supporting results | Data files in standard formats (e.g., VCF, BED, GFF, TSV, CSV) | |||||
| Consultation & Experimental Design | Project-specific experimental plans and recommendations | Sample requirements and quality criteria | Platform and assay selection | Sequencing depth/coverage recommendations | Bioinformatics analysis plan | Project proposal and timeline | Regular project update meetings | Written recommendations and protocol outlines |
Key Genomics Core Facility Services
- Next-Generation Sequencing (NGS) library preparation and sequencing
- Single-cell RNA sequencing (scRNA-seq) library preparation and sequencing
- Long-read sequencing library preparation and sequencing
- Genotyping and SNP array services
- Quantitative PCR (qPCR) and digital PCR (dPCR) services
- Bioinformatics analysis services (data processing, quality control, variant calling, differential expression analysis, etc.)
- Consultation and experimental design support
Service Level Agreement For Genomics Core Facilities
This Service Level Agreement (SLA) outlines the expected response times and uptime guarantees for the Genomics Core Facilities. It defines the commitments made by the Genomics Core Facilities to its users and the metrics by which performance will be measured. This SLA applies to all services provided by the Genomics Core Facilities, including sequencing, genotyping, bioinformatics support, and consultation services.
| Service Category | Response Time (Business Hours) | Uptime Guarantee | Typical Issue Resolution Time | Notes |
|---|---|---|---|---|
| Sequencing (e.g., Illumina, PacBio) | 24-48 hours for initial assessment/troubleshooting | 98% uptime for operational equipment | 48-72 hours for minor technical issues | Dependent on instrument availability and complexity of the issue. Expedited services may be available at an additional cost. |
| Genotyping (e.g., SNP arrays, ddRADseq) | 24-48 hours for initial assessment/troubleshooting | 98% uptime for operational equipment | 48-72 hours for minor technical issues | Data delivery timelines are project-specific and will be clearly communicated. |
| Bioinformatics Support (data analysis, consultation) | 48-72 hours for initial consultation scheduling/response | N/A (Service-based, not uptime dependent) | Variable, based on project scope and complexity. Agreed upon during project planning. | |
| General Inquiries & Consultation | 24-48 hours | N/A | N/A | |
| Website & Online Portal | 24 hours for technical issues | 99% uptime | 24-48 hours for critical issues |
Key Service Metrics
- Response Time: The maximum time allowed for the Genomics Core Facilities to acknowledge and begin addressing a user's request or issue.
- Uptime Guarantee: The percentage of scheduled operational time during which the Genomics Core Facilities' services are available and functional.
- Issue Resolution: The timeframe for resolving reported technical issues or data delivery delays.
- Data Delivery: The guaranteed turnaround time for sample processing and data generation, as agreed upon during project initiation.
In-Depth Guidance
Frequently Asked Questions
Phase 02: Execution
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