Bioinformatics Researcher
Driving bioinformatics research, innovating solutions, and developing pipelines that power genomic discovery.
About Me
I am a dedicated bioinformatics professional with a strong focus on clinical genomics, next-generation sequencing (NGS), and data-driven pipeline development. With hands-on experience in variant interpretation, NIPT, metagenomics, and fungal/bacterial WGS, I design automated workflows that enhance efficiency and accuracy in diagnostic and research settings.
I actively contribute to the development of reproducible pipelines and robust bioinformatics solutions. As a passionate educator, I also teach bioinformatics principles, making complex analyses accessible to learners and professionals alike. My goal is to bridge biology and computation through scalable, impactful solutions that advance precision medicine and real-world genomic discovery.
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Genomics Focus
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Research Driven
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Innovation Mindset
My Bioinformatics Journey
From curiosity to expertise - A story of bridging biology and computation
The Beginning - Discovery of Bioinformatics
Early Academic Years
My journey began with a fascination for both biology and technology. The intersection of these fields sparked a curiosity that would define my career path. I discovered that computational methods could unlock insights hidden within biological data, and this realization became the foundation of my passion.
Building Foundations - Learning the Craft
Academic Training
I immersed myself in learning programming languages like Python and R, understanding Unix/Linux systems, and mastering statistical methods. This period was marked by countless hours of coding, debugging, and building a strong computational foundation while deepening my understanding of genomics and molecular biology.
Clinical Bioinformatics - Real-World Impact
Professional Experience
Transitioning into clinical bioinformatics marked a pivotal moment. I began working with real patient data, analyzing NIPT samples, performing variant interpretation, and contributing to diagnostic workflows. This experience taught me the critical importance of accuracy, reproducibility, and the direct impact of bioinformatics on patient care.
Pipeline Development - Automation & Scale
Advancing Expertise
As I gained experience, I focused on developing automated bioinformatics pipelines. I learned to work with workflow management systems, containerization technologies like Docker, and cloud computing. My pipelines began processing bacterial WGS, metagenomic samples, and complex RNA-seq datasets with efficiency and reproducibility.
Research Contributions - EndoE2-Prognostica
Cancer Genomics Research
A breakthrough moment came with the EndoE2-Prognostica project, where I investigated estradiol-regulated miRNA-mRNA networks in endometrial cancer. This research identified prognostic biomarkers with exceptional clinical predictive power (HR: 17.92), demonstrating the potential of integrated multi-omics approaches in precision medicine.
Teaching & Mentoring - Sharing Knowledge
Education & Community
I discovered a passion for teaching bioinformatics to others. Breaking down complex concepts, making analyses accessible, and helping learners overcome challenges became an integral part of my journey. Through workshops, tutorials, and mentoring, I've helped numerous individuals enter the field of bioinformatics.
Today & Beyond - Continuous Innovation
Present & Future
Today, I continue to push boundaries in bioinformatics, developing innovative solutions that bridge the gap between biological questions and computational answers. My focus remains on creating scalable, reproducible pipelines and contributing to precision medicine. The journey continues, with machine learning integration, multi-omics analysis, and novel genomic discoveries on the horizon.
Skills & Expertise
Genomics & NGS
- FASTQ Processing
- Whole Genome Sequencing
- Metagenomics
Data Analysis & Statistics
- RNA-seq Analysis
- Differential Expression
- Pathway Enrichment
- Statistical Modeling
- Data Visualization
Programming & Tools
- Python
- Bash/Linux
- Docker
- Git/GitHub
Clinical Bioinformatics
- Sanger Sequencing (Mutation Confirmation)
- NIPT Analysis
- Clinical Genomics
- Quality Control
- Report Generation
Services
Genomic Data Analysis
Comprehensive analysis of genomic datasets including variant calling, annotation, and interpretation of NGS data
- Whole Genome Sequencing (Bacteria) Data Analysis
- Whole Metagenome Shotgun Sequencing Data Analysis
- Whole Exome Sequencing Data Analysis
- 16S Metagenomics Data Analysis
RNA-seq Analysis
End-to-end RNA-Seq data analysis โ from raw reads to biological insights. Includes QC, alignment, DEG analysis, pathway enrichment, and visualizations.
- Differential Gene Expression Analysis
- Functional Enrichment & Pathway Analysis
- Advanced Visualization & Reporting
- Specialized RNA-seq Analyses
Sanger Sequencing Data Analysis
Comprehensive analysis of Sanger sequencing data for variant detection and sequence validation
- Base Calling & Quality Assessment
- Sequence Assembly & Alignment
- Variant Detection & Annotation
- Chromatogram Analysis & Reporting
Custom Pipeline Development
Automated bioinformatics workflows and pipeline development
- Nextflow & Snakemake Workflows
- Docker & Singularity Containerization
- Cloud-Based Pipeline Deployment
- Pipeline Optimization & Scaling
Data Visualization
Interactive dashboards and publication-ready visualizations
- Interactive Web Dashboards (Shiny, Plotly)
- Publication-Ready Figures (ggplot2, matplotlib)
- Genomic Data Visualization (IGV, Circos)
- Custom Data Exploration Tools
Training & Consulting
Bioinformatics training and strategic consulting services
- R/Python Programming for Bioinformatics
- NGS Data Analysis Workshops
- Statistical Analysis Training
- Research Strategy Consulting
Coming Soon
Machine Learning Solutions
Custom ML models for biological data prediction and classification tasks
Genomic Data Analysis
Comprehensive analysis of genomic datasets including variant calling, annotation, and interpretation of NGS data
What We Offer
Whole Genome Sequencing (Bacteria) Data Analysis
Comprehensive bacterial genome analysis from raw reads to biological insights. Click to view details โ
- Quality control and preprocessing of raw reads
- De novo genome assembly using SPAdes/Unicycler
- Genome annotation with Prokka/RAST
- Antimicrobial resistance gene prediction
- Virulence factor identification
- Phylogenetic analysis and MLST typing
Whole Metagenome Shotgun Sequencing Data Analysis
- Taxonomic profiling using Kraken2/MetaPhlAn
- Functional annotation with HUMAnN3
- Assembly and binning of metagenome-assembled genomes (MAGs)
- Diversity analysis (alpha and beta diversity)
- Pathway reconstruction and metabolic analysis
- Comparative metagenomics between samples
Whole Exome Sequencing Data Analysis
- Read alignment to reference genome (BWA/STAR)
- Variant calling using GATK best practices
- Variant annotation with ANNOVAR/VEP
- Quality control and filtering strategies
- Pathogenicity prediction and clinical interpretation
- Copy number variation (CNV) analysis
16S Metagenomics Data Analysis
- Quality control and chimera removal
- OTU clustering or ASV generation using QIIME2/DADA2
- Taxonomic assignment against SILVA/Greengenes databases
- Alpha and beta diversity analysis
- Statistical testing and differential abundance analysis
- Visualization and publication-ready figures
Our Process
Data Consultation
Initial assessment of your data type and research questions
Quality Control
Comprehensive QC assessment and preprocessing
Analysis Pipeline
Execute appropriate bioinformatics pipeline
Results & Report
Detailed analysis report with biological interpretation
Whole Genome Sequencing (Bacteria) Data Analysis
Comprehensive bacterial genome analysis from raw sequencing data to actionable biological insights, including antimicrobial resistance profiling and phylogenetic analysis.
Service Overview
Our bacterial whole genome sequencing analysis service provides end-to-end computational analysis of bacterial genomes. We specialize in both de novo assembly and reference-guided approaches, delivering high-quality assemblies and comprehensive annotations for research and clinical applications.
Key Features
De Novo Assembly
- High-quality assembly using SPAdes, Unicycler, or Flye
- Hybrid assembly (short + long reads)
- Assembly polishing and quality assessment
- Plasmid identification and analysis
Comprehensive Annotation
- Gene prediction with Prokka/PGAP
- Functional annotation against COG, KEGG, GO databases
- rRNA and tRNA identification
- Mobile genetic element detection
Resistance & Virulence Analysis
- AMR gene detection using CARD, ResFinder
- Virulence factor identification (VFDB)
- Pathogenicity prediction
- Integron and transposon analysis
Phylogenetic & Typing
- MLST typing and sequence type determination
- Core genome phylogeny
- SNP-based analysis
- Outbreak investigation support
Analysis Workflow
Quality Control
FastQC analysis, adapter trimming, and read quality assessment
Genome Assembly
De novo assembly, assembly statistics, and quality evaluation
Annotation & Analysis
Gene prediction, functional annotation, and specialized analyses
Reporting
Comprehensive report with visualizations and biological interpretation
Frequently Asked Questions
What is the difference between de novo and reference-guided assembly?
+De novo assembly reconstructs the genome from scratch without using a reference, ideal for novel strains or discovering structural variations. Reference-guided assembly aligns reads to a known reference genome, providing faster analysis and better contiguity for well-characterized organisms.
Which sequencing platforms do you support?
+We support data from all major platforms including Illumina (short reads), Oxford Nanopore (long reads), PacBio (long reads), and hybrid approaches combining multiple technologies for optimal assembly quality.
What types of bacteria can you analyze?
+We analyze all bacterial species including clinical isolates, environmental bacteria, extremophiles, and novel species. Our pipelines are optimized for both gram-positive and gram-negative bacteria with varying GC content and genome sizes.
Can you provide custom analysis beyond standard workflow?
+Yes, we offer customized analyses including comparative genomics, pangenome analysis, specialized gene family analysis, custom database searches, and integration with your existing datasets based on research requirements.
What deliverables do you provide?
+Complete deliverables include assembled genome files (FASTA), annotation files (GFF/GBK), quality reports, AMR/virulence analysis results, phylogenetic trees, and a comprehensive PDF report with biological interpretation and visualizations.
Let's Analyze Your Data
Ready to unlock insights from your bacterial genome data? Let's discuss your project and create a tailored analysis plan.
Start Your ProjectWhole Metagenome Shotgun Sequencing Data Analysis
Comprehensive metagenomic analysis to characterize microbial communities, functional potential, and ecosystem dynamics from environmental and clinical samples.
Service Overview
Our metagenome analysis service provides complete characterization of microbial communities through shotgun sequencing. We deliver taxonomic profiling, functional annotation, and comprehensive insights into community structure and metabolic potential.
Key Features
Taxonomic Profiling
- Species-level identification with Kraken2/MetaPhlAn
- Abundance estimation and diversity analysis
- Novel species detection and characterization
- Phylogenetic tree construction
Functional Annotation
- Gene prediction and functional annotation
- Pathway reconstruction with HUMAnN3
- CAZy database analysis for carbohydrate metabolism
- Secondary metabolite prediction
Genome Assembly & Binning
- Metagenome-Assembled Genomes (MAGs) recovery
- Genome completeness and contamination assessment
- Taxonomic assignment of MAGs
- Comparative genomics analysis
Community Analysis
- Alpha and beta diversity calculations
- Community comparison and clustering
- Biomarker discovery
- Network analysis and co-occurrence patterns
Frequently Asked Questions
What sample types can be analyzed?
+We analyze diverse samples including soil, water, sediment, gut microbiome, oral microbiome, skin microbiome, plant rhizosphere, and clinical specimens. Each sample type requires specific preprocessing considerations.
How deep should sequencing be for metagenomics?
+Sequencing depth depends on goals: 1-5M reads for basic profiling, 10-50M for functional analysis, and 100M+ reads for MAG recovery. We provide recommendations based on your research objectives.
What databases do you use for annotation?
+We use comprehensive databases including NCBI RefSeq, GTDB, ChocoPhlAn, UniRef, KEGG, COG, CAZy, and specialized databases for antibiotic resistance genes and virulence factors.
Get Started
Ready to explore your microbial community? Contact us for a customized analysis plan.
Request QuoteDifferential Gene Expression Analysis
Advanced statistical analysis to identify genes with significant expression changes between conditions, treatments, or time points using cutting-edge bioinformatics approaches.
Service Overview
Our differential expression analysis service provides robust statistical methods to identify biologically significant genes from RNA-seq data. We use industry-standard tools with proper experimental design considerations and multiple testing corrections.
Analysis Methods
Statistical Analysis
- DESeq2 for count-based analysis
- edgeR for complex experimental designs
- limma-voom for microarray and RNA-seq
- Multiple testing correction (FDR, Bonferroni)
Quality Control & Normalization
- Sample quality assessment and outlier detection
- Library size normalization
- Batch effect detection and correction
- Principal component analysis
Visualization & Reporting
- Volcano plots and MA plots
- Expression heatmaps with clustering
- PCA and MDS plots
- Gene expression profiles and trends
Advanced Analysis
- Time-course expression analysis
- Multi-factor experimental designs
- Gene set enrichment analysis integration
- Co-expression network analysis
Frequently Asked Questions
What statistical thresholds do you use?
+We typically use FDR < 0.05 and |log2FC| > 1 as default thresholds, but these can be adjusted based on your experimental needs and biological context. We provide both raw p-values and corrected p-values.
How many replicates do I need?
+Minimum 3 biological replicates per condition are recommended. More replicates increase statistical power and reliability. We can provide power analysis to determine optimal sample sizes for your study.
Can you handle complex experimental designs?
+Yes, we handle multi-factor designs, time-course experiments, paired samples, batch effects, and other complex scenarios using appropriate statistical models and design matrices.
Get Started
Ready to identify differentially expressed genes? Let's discuss your experimental design.
Request AnalysisWhole Exome Sequencing Data Analysis
Comprehensive analysis of protein-coding regions to identify variants associated with genetic disorders, cancer, and pharmacogenomics applications.
Service Overview
Our exome sequencing analysis provides comprehensive variant calling, annotation, and clinical interpretation focusing on protein-coding regions that represent ~85% of known disease-causing mutations.
Key Features
Variant Calling & QC
- GATK best practices workflow
- SNV and Indel detection
- Copy number variation analysis
- Quality score recalibration and filtering
Annotation & Interpretation
- Functional annotation with ANNOVAR/VEP
- Population frequency from gnomAD/1000G
- Pathogenicity prediction (CADD, SIFT, PolyPhen)
- Clinical significance from ClinVar
Clinical Analysis
- ACMG guidelines interpretation
- Disease gene association analysis
- Pharmacogenomics variant analysis
- Inheritance pattern analysis
Reporting & Visualization
- Variant prioritization and filtering
- Interactive variant browser
- Coverage analysis and QC metrics
- Clinical-grade reporting
Frequently Asked Questions
What coverage depth is recommended?
+We recommend 100x average coverage for clinical applications and 50x for research. Higher coverage improves variant calling sensitivity, especially for heterozygous variants and CNVs.
How do you prioritize variants?
+We use multi-step filtering: quality metrics, population frequency, functional impact prediction, disease gene databases, and ACMG guidelines. Custom filtering based on phenotype and inheritance patterns is available.
Can you analyze family trios or cohorts?
+Yes, we specialize in trio analysis (proband + parents) for de novo variant detection and cohort analysis for case-control studies, including population stratification and association testing.
Get Started
Ready to discover clinically relevant variants? Contact us for expert exome analysis.
Request AnalysisFunctional Enrichment & Pathway Analysis
Transform gene lists into biological insights through comprehensive pathway enrichment, functional annotation, and network analysis using cutting-edge bioinformatics tools.
Service Overview
Our pathway analysis service reveals the biological significance of your gene expression data through systematic functional enrichment analysis, pathway mapping, and network-based approaches to identify key biological processes.
Analysis Methods
Gene Ontology Analysis
- Biological Process enrichment
- Molecular Function analysis
- Cellular Component localization
- GO term hierarchy visualization
Pathway Databases
- KEGG pathway enrichment
- Reactome pathway analysis
- WikiPathways integration
- BioCarta and PANTHER pathways
Advanced Methods
- Gene Set Enrichment Analysis (GSEA)
- Over-representation analysis (ORA)
- Functional class scoring
- Leading edge analysis
Network Analysis
- Protein-protein interaction networks
- Pathway crosstalk analysis
- Hub gene identification
- Module detection and clustering
Frequently Asked Questions
What gene list formats do you accept?
+We accept gene symbols, Ensembl IDs, RefSeq IDs, UniProt IDs, and Entrez Gene IDs. We can also work with differential expression results including fold changes and p-values for more sophisticated analyses.
How do you correct for multiple testing?
+We use Benjamini-Hochberg FDR correction as default, but can apply Bonferroni, Holm, or other methods as appropriate. We provide both raw and adjusted p-values with clear significance thresholds.
Can you analyze non-model organisms?
+Yes, we perform orthology-based analysis for non-model organisms by mapping genes to well-annotated species (human, mouse, fly, etc.) and can create custom pathway databases for specific organisms.
Get Started
Ready to unlock the biological meaning of your data? Let's explore your pathways.
Start Analysis16S Metagenomics Data Analysis
Comprehensive microbial community analysis through 16S rRNA gene sequencing for taxonomic profiling, diversity assessment, and ecological insights.
Service Overview
Our 16S metagenomics service provides detailed microbial community characterization using the most widely adopted marker gene for bacterial and archaeal identification, delivering publication-ready results and biological insights.
Analysis Pipeline
Quality Control & Processing
- DADA2/QIIME2 processing pipeline
- Primer removal and quality filtering
- Chimera detection and removal
- ASV/OTU clustering and denoising
Taxonomic Classification
- SILVA/Greengenes/RDP database assignment
- Species-level identification when possible
- Phylogenetic tree construction
- Novel OTU identification and characterization
Diversity Analysis
- Alpha diversity (Shannon, Simpson, Chao1)
- Beta diversity (UniFrac, Bray-Curtis)
- Rarefaction curves and sample adequacy
- Statistical testing and visualization
Comparative Analysis
- Differential abundance testing (LEfSe, DESeq2)
- Biomarker identification
- Core microbiome analysis
- Functional prediction (PICRUSt2)
Frequently Asked Questions
Which 16S region should I sequence?
+V3-V4 region is most popular for balanced taxonomic resolution. V4 region offers good cost-effectiveness, while V1-V3 is better for specific applications. We can advise based on your sample type and research goals.
How many samples do I need for statistical power?
+Minimum 6-10 samples per group for basic comparisons, but 15-20 samples per group are recommended for robust statistical analysis. Power analysis can help determine optimal sample sizes for your study design.
Can you analyze longitudinal/time-series data?
+Yes, we specialize in longitudinal analysis including time-series modeling, trajectory analysis, and identification of temporal patterns in microbial communities using specialized statistical approaches.
Get Started
Ready to explore your microbial communities? Let's analyze your 16S data.
Start AnalysisAdvanced Visualization & Reporting
Publication-ready visualizations and comprehensive reports for RNA-seq analysis results with interactive dashboards and custom graphics.
Service Overview
Transform your RNA-seq analysis results into compelling visual narratives with professional publication-ready figures, interactive dashboards, and comprehensive reports that clearly communicate your biological findings.
Visualization Types
Expression Plots
- Volcano plots with interactive features
- MA plots and scatter plots
- Expression heatmaps with clustering
- Box plots and violin plots
Pathway Visualizations
- KEGG pathway mapping
- GO enrichment bubble charts
- Network diagrams and graphs
- Sankey diagrams for functional flow
Quality Control Plots
- PCA and t-SNE plots
- Sample correlation matrices
- Read quality and mapping statistics
- Batch effect visualization
Interactive Dashboards
- Shiny web applications
- Plotly interactive plots
- Custom gene expression browsers
- Real-time filtering and exploration
Frequently Asked Questions
What formats do you provide for publications?
+We provide high-resolution formats including PDF, SVG, PNG (300+ DPI), and EPS for publications. All figures are designed to meet journal requirements with proper sizing, fonts, and color schemes.
Can you create custom visualizations?
+Absolutely! We create custom visualizations tailored to your specific research questions, including novel plot types, custom color schemes, and specialized layouts for unique data presentations.
Do you provide the source code for plots?
+Yes, we provide well-documented R/Python scripts for all visualizations, enabling you to reproduce, modify, and adapt the plots for future analyses or different datasets.
Get Started
Ready to create stunning visualizations? Let's bring your data to life.
Request VisualizationRNA-seq Analysis
End-to-end RNA-Seq data analysis โ from raw reads to biological insights. Includes QC, alignment, DEG analysis, pathway enrichment, and visualizations.
What We Offer
Differential Gene Expression Analysis
- Quality control and preprocessing with FastQC/MultiQC
- Read alignment using STAR/HISAT2
- Gene quantification with featureCounts/RSEM
- Statistical analysis using DESeq2/edgeR
- Multiple testing correction and significance filtering
- Volcano plots and heatmaps for visualization
Functional Enrichment & Pathway Analysis
- Gene Ontology (GO) enrichment analysis
- KEGG pathway enrichment
- Reactome pathway analysis
- Gene Set Enrichment Analysis (GSEA)
- Protein-protein interaction networks
- Functional annotation clustering
Advanced Visualization & Reporting
- PCA and clustering analysis
- Interactive volcano plots and MA plots
- Expression heatmaps with hierarchical clustering
- Pathway visualization and network diagrams
- Custom plots based on research questions
- Detailed analysis report with biological interpretation
Specialized RNA-seq Analyses
- Time-course expression analysis
- Single-cell RNA-seq analysis
- Alternative splicing analysis
- Long non-coding RNA identification
- Co-expression network analysis
- Integration with other omics data
Our Process
Project Setup
Discuss experimental design and research questions
Quality Assessment
Comprehensive quality control and preprocessing
Expression Analysis
Gene quantification and differential expression
Biological Interpretation
Functional enrichment and comprehensive reporting
Base Calling & Quality Assessment
Professional quality control and base calling services for Sanger sequencing data with comprehensive quality metrics and trace file analysis.
Service Overview
Our base calling and quality assessment service ensures accurate sequence determination from Sanger sequencing chromatogram files, providing detailed quality metrics and recommendations for downstream analysis.
Analysis Components
Automated Base Calling
- Phred base calling with quality scores
- Trace signal processing and optimization
- Peak detection and resolution
- Ambiguous base identification (N-calls)
Quality Metrics Analysis
- Phred quality score distribution
- Sequence read length assessment
- Signal-to-noise ratio evaluation
- Trimming recommendations
Chromatogram Analysis
- Trace file visualization and interpretation
- Peak shape and spacing analysis
- Dye blob and artifact detection
- Mixed sequence identification
Quality Reporting
- Comprehensive quality reports
- Pass/fail assessment criteria
- Recommendations for re-sequencing
- Batch processing summaries
Frequently Asked Questions
What file formats do you accept?
+We accept all standard Sanger sequencing formats including AB1, SCF, ZTR trace files, and FASTA/FASTQ sequence files. We can also process batch uploads of multiple files.
What quality thresholds do you use?
+We typically use Phred scores >20 for acceptable quality (99% accuracy) and >30 for high quality (99.9% accuracy). Custom thresholds can be applied based on your specific requirements.
Can you handle high-throughput Sanger data?
+Yes, we have automated pipelines for processing hundreds to thousands of Sanger sequences with batch reporting and statistical summaries across entire datasets.
Get Started
Need reliable base calling and quality assessment? Let's analyze your Sanger data.
Request AnalysisSequence Assembly & Alignment
Expert sequence assembly services for Sanger sequencing data including contig assembly, alignment to reference sequences, and consensus sequence generation.
Service Overview
Transform your Sanger sequencing reads into high-quality assembled sequences with our comprehensive assembly and alignment services, featuring both reference-based and de novo assembly approaches.
Assembly Services
Sequence Assembly
- Overlapping read assembly
- Contig generation and merging
- Gap filling and sequence extension
- Consensus sequence determination
Reference Alignment
- BLAST-based similarity searches
- Global and local sequence alignment
- Multiple sequence alignment (MSA)
- Phylogenetic tree construction
Quality Control
- Assembly quality assessment
- Coverage depth analysis
- Contamination detection
- Vector sequence removal
Results & Visualization
- Assembly statistics and metrics
- Alignment visualization
- Sequence annotation and features
- Publication-ready sequence figures
Frequently Asked Questions
What's the minimum overlap needed for assembly?
+We typically require at least 50-100 bp overlap with >95% identity for reliable assembly, though parameters can be adjusted based on sequence quality and project requirements.
Can you assemble sequences with gaps?
+Yes, we provide gap-aware assembly with proper gap representation (N's) and recommendations for additional sequencing reactions to close gaps when needed.
Do you provide primer walking services?
+We provide primer design recommendations for walking strategies to extend sequences and close gaps, including optimal primer positioning and conditions.
Variant Detection & Annotation
Comprehensive variant detection and annotation services for Sanger sequencing data including SNP/INDEL identification, clinical interpretation, and functional annotation.
Service Overview
Identify and characterize genetic variants from your Sanger sequencing data with expert analysis, clinical-grade annotation, and comprehensive interpretation for research and diagnostic applications.
Variant Analysis Services
Variant Detection
- SNP and INDEL identification
- Heterozygous variant detection
- Mixed sequence analysis
- Low-frequency variant calling
Variant Annotation
- dbSNP and ClinVar annotation
- OMIM disease associations
- Population frequency data
- Conservation scores (GERP, PhyloP)
Functional Impact Analysis
- Protein impact prediction
- Splice site effect analysis
- Pathogenicity prediction (SIFT, PolyPhen)
- ACMG/AMP classification guidelines
Clinical Reporting
- Comprehensive variant reports
- Clinical interpretation summaries
- Treatment recommendations
- Family screening guidance
Frequently Asked Questions
What variant types can you detect?
+We can detect SNPs, small INDELs (<50 bp), heterozygous variants, and complex variants from Sanger sequencing data. Large structural variants require specialized analysis approaches.
Do you follow clinical guidelines?
+Yes, we follow ACMG/AMP guidelines for variant classification and provide clinical-grade interpretations suitable for diagnostic and research applications.
Can you analyze family inheritance patterns?
+Absolutely! We can analyze segregation patterns in families, determine inheritance modes, and provide genetic counseling recommendations based on variant data.
Get Started
Need expert variant analysis? Let's identify and interpret your variants.
Request AnalysisChromatogram Analysis & Reporting
Professional chromatogram interpretation and comprehensive reporting services for Sanger sequencing with detailed trace analysis and quality assessment.
Service Overview
Expert interpretation of Sanger sequencing chromatograms with detailed trace analysis, quality assessment, and comprehensive reporting for research and clinical applications.
Analysis Services
Chromatogram Interpretation
- Expert manual review of trace files
- Peak height and shape analysis
- Mixed sequence identification
- Artifact recognition and correction
Quality Assessment
- Signal quality evaluation
- Background noise assessment
- Dye terminator balance analysis
- Read-through quality scoring
Visual Analysis Tools
- Enhanced chromatogram visualization
- Comparative trace overlays
- Quality score mapping
- Annotation and highlighting
Comprehensive Reporting
- Detailed analysis reports
- Quality metrics summaries
- Interpretation guidelines
- Recommendations for improvement
Frequently Asked Questions
What makes your chromatogram analysis different?
+We provide expert manual review combined with automated tools, identifying subtle artifacts and mixed sequences that automated systems might miss, ensuring highest accuracy.
Can you handle problematic sequences?
+Yes, we specialize in analyzing challenging sequences including GC-rich regions, repetitive sequences, and low-quality traces with expert recommendations for optimization.
What report formats do you provide?
+We provide detailed PDF reports with annotated chromatograms, quality metrics tables, sequence summaries, and recommendations in both technical and client-friendly formats.
Nextflow & Snakemake Workflows
Professional workflow development using industry-standard frameworks for scalable, reproducible, and portable bioinformatics pipelines with automated resource management.
Service Overview
Build robust, scalable bioinformatics workflows using Nextflow and Snakemake frameworks, featuring automatic parallelization, resource management, and seamless deployment across different computing environments.
Workflow Solutions
Nextflow Pipelines
- Dataflow-driven pipeline architecture
- Automatic parallelization and scalability
- Container-based process isolation
- Cloud-native execution (AWS, Google, Azure)
Snakemake Workflows
- Rule-based workflow definition
- Intelligent dependency resolution
- Resource-aware job scheduling
- Conda environment management
Pipeline Features
- Checkpointing and resume capabilities
- Comprehensive logging and monitoring
- Parameter validation and error handling
- Modular and reusable components
Quality & Documentation
- Comprehensive testing frameworks
- Detailed documentation and tutorials
- Performance benchmarking
- Best practices implementation
Frequently Asked Questions
Which framework should I choose?
+Nextflow excels for cloud deployment and complex dataflows, while Snakemake is ideal for Python-integrated workflows and HPC environments. We'll recommend the best fit for your specific use case.
Can you migrate existing pipelines?
+Absolutely! We specialize in converting bash scripts, custom pipelines, and legacy workflows into modern, maintainable Nextflow or Snakemake implementations.
Do you provide training and support?
+Yes, we offer comprehensive training on workflow development, best practices, and ongoing support for pipeline maintenance and optimization.
Get Started
Ready to build scalable workflows? Let's create your perfect pipeline.
Start DevelopmentDocker & Singularity Containerization
Expert containerization services for bioinformatics tools and pipelines ensuring reproducibility, portability, and seamless deployment across different computing environments.
Service Overview
Transform your bioinformatics tools and analysis pipelines into portable, reproducible containers using Docker and Singularity, enabling consistent execution across local, HPC, and cloud environments.
Containerization Services
Docker Solutions
- Multi-stage optimized Dockerfiles
- Bioconda and Conda-forge integration
- Security-hardened base images
- Automated builds and testing
Singularity Containers
- HPC-compatible container images
- Rootless execution for security
- GPU support and CUDA integration
- MPI-enabled parallel computing
Optimization & Testing
- Image size minimization
- Layer caching strategies
- Comprehensive testing suites
- Performance benchmarking
Distribution & Registry
- Container registry management
- Version control and tagging
- Documentation and usage guides
- Automated deployment pipelines
Frequently Asked Questions
Docker vs Singularity - which to choose?
+Docker is ideal for development and cloud deployment, while Singularity is preferred for HPC environments due to security requirements. We often provide both formats for maximum compatibility.
How do you handle complex dependencies?
+We use multi-stage builds, conda environments, and careful dependency management to create clean, minimal containers while avoiding version conflicts and ensuring reproducibility.
Do you provide container orchestration?
+Yes, we can set up Kubernetes, Docker Swarm, or workflow-based orchestration systems for complex multi-container applications and scalable deployments.
Get Started
Ready to containerize your tools? Let's make them portable and reproducible.
Start ContainerizationCloud-Based Pipeline Deployment
Expert cloud deployment services for bioinformatics pipelines across AWS, Google Cloud, and Azure with automated scaling, cost optimization, and high-performance computing solutions.
Service Overview
Deploy your bioinformatics workflows to the cloud with our comprehensive deployment services, featuring auto-scaling, cost management, and enterprise-grade security across major cloud platforms.
Cloud Platforms
AWS Deployment
- AWS Batch for scalable computing
- EC2 Spot instances for cost savings
- S3 storage and lifecycle management
- Lambda functions for automation
Google Cloud Platform
- Google Life Sciences API
- Preemptible VMs optimization
- Cloud Storage and BigQuery
- Kubernetes Engine orchestration
Microsoft Azure
- Azure Batch computing pools
- Container Instances deployment
- Data Lake storage solutions
- Azure Machine Learning integration
Optimization & Management
- Auto-scaling and resource optimization
- Cost monitoring and budgeting
- Security and compliance setup
- Monitoring and alerting systems
Frequently Asked Questions
Which cloud platform is most cost-effective?
+Cost depends on your specific workload. We analyze your requirements and provide cost comparisons across platforms, often recommending hybrid approaches for optimal pricing.
How do you handle data security and compliance?
+We implement end-to-end encryption, IAM policies, VPC isolation, and compliance frameworks (HIPAA, GDPR) tailored to your data sensitivity and regulatory requirements.
Can you migrate existing on-premise workflows?
+Absolutely! We provide complete migration services including dependency mapping, containerization, data transfer strategies, and gradual migration approaches to minimize downtime.
Get Started
Ready to scale in the cloud? Let's deploy your pipelines globally.
Start Cloud MigrationPipeline Optimization & Scaling
Performance optimization and scaling services for bioinformatics pipelines including bottleneck analysis, resource optimization, and high-throughput computing solutions.
Service Overview
Maximize the performance and efficiency of your bioinformatics pipelines through comprehensive optimization, profiling, and scaling strategies tailored to your computing environment and throughput requirements.
Optimization Services
Performance Analysis
- Computational bottleneck identification
- Memory usage profiling
- I/O optimization strategies
- CPU and GPU utilization analysis
Algorithm Optimization
- Code profiling and hotspot analysis
- Parallel processing implementation
- Memory-efficient data structures
- Alternative algorithm evaluation
Scalability Solutions
- Horizontal and vertical scaling
- Load balancing strategies
- Distributed computing setup
- Queue management systems
Cost Optimization
- Resource usage monitoring
- Spot instance utilization
- Storage optimization
- Workflow scheduling optimization
Frequently Asked Questions
How much performance improvement can I expect?
+Improvements vary by pipeline complexity, but we typically achieve 2-10x speedup through parallelization, algorithm optimization, and resource management improvements.
Do you work with existing pipelines?
+Yes, we specialize in optimizing existing workflows regardless of their current implementation, from simple bash scripts to complex workflow management systems.
How do you measure optimization success?
+We provide detailed before/after benchmarks including runtime, resource utilization, cost metrics, and throughput measurements with comprehensive performance reports.
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Ready to supercharge your pipelines? Let's optimize for maximum performance.
Start OptimizationInteractive Web Dashboards (Shiny, Plotly)
Create dynamic, interactive web applications for data exploration and visualization using R Shiny, Python Dash, and Plotly for real-time analysis and user engagement.
Service Overview
Build powerful interactive web dashboards that allow users to explore complex biological data through intuitive interfaces, real-time filtering, and dynamic visualizations without requiring programming knowledge.
Dashboard Solutions
R Shiny Applications
- Reactive user interfaces with real-time updates
- Advanced input controls and widgets
- Integration with Bioconductor packages
- Server deployment and optimization
Python Dash & Plotly
- Modern web framework for Python
- Interactive plotly visualizations
- Machine learning model integration
- Responsive design and mobile optimization
Specialized Features
- Gene expression browsers and heatmaps
- Pathway visualization and networks
- Quality control monitoring tools
- Comparative analysis interfaces
Deployment & Hosting
- Cloud hosting on AWS, GCP, or Azure
- User authentication and access control
- Performance optimization and caching
- Maintenance and update services
Frequently Asked Questions
R Shiny vs Python Dash - which to choose?
+R Shiny is excellent for bioinformatics with rich package ecosystem, while Python Dash offers modern web features and ML integration. We choose based on your data pipeline and team preferences.
Can you handle large datasets in dashboards?
+Yes, we implement data sampling, server-side processing, caching strategies, and progressive loading to ensure smooth performance with large genomics datasets.
Do you provide training for dashboard maintenance?
+Absolutely! We provide comprehensive training on dashboard management, updates, and basic customizations so your team can maintain and extend the applications.
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Ready to create interactive dashboards? Let's bring your data to life.
Start Dashboard DevelopmentPublication-Ready Figures (ggplot2, matplotlib)
Create high-quality, publication-ready scientific figures using advanced plotting libraries with proper styling, statistical annotations, and journal-specific formatting requirements.
Service Overview
Transform your research data into compelling publication-ready visualizations that meet journal standards, tell your scientific story effectively, and enhance the impact of your research publications.
Visualization Services
Statistical Plots
- Box plots, violin plots, and bee swarm plots
- Correlation matrices and scatter plots
- Error bars and confidence intervals
- Statistical significance annotations
Genomics Visualizations
- Volcano plots and MA plots
- Heatmaps with hierarchical clustering
- Manhattan plots for GWAS data
- Phylogenetic trees and networks
Custom Design & Styling
- Journal-specific formatting compliance
- Color-blind friendly palettes
- Professional typography and spacing
- Multi-panel figure composition
Output & Documentation
- High-resolution formats (PDF, SVG, PNG)
- Reproducible R/Python scripts
- Figure legends and captions
- Version control and revision tracking
Frequently Asked Questions
What file formats do you provide?
+We provide vector formats (PDF, SVG, EPS) for scalability and high-resolution raster formats (PNG, TIFF) at 300+ DPI for journal requirements. All formats are publication-ready.
Can you match specific journal requirements?
+Absolutely! We're familiar with requirements from major journals (Nature, Science, Cell, PLOS) and customize figures to meet specific style guides, dimensions, and formatting requirements.
Do you provide the source code for figures?
+Yes, we provide well-documented, reproducible code (R/ggplot2 or Python/matplotlib) that allows you to regenerate and modify figures for future publications or revisions.
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Ready to create stunning publication figures? Let's visualize your research.
Request Figure DesignGenomic Data Visualization (IGV, Circos)
Specialized genomic visualization services using industry-standard tools like IGV, Circos, and custom solutions for genome browsers, structural variants, and multi-omics integration.
Service Overview
Create comprehensive genomic visualizations that effectively communicate complex structural information, variant landscapes, and multi-dimensional genomic data through specialized tools and custom solutions.
Visualization Tools & Services
Circos Plots
- Whole genome structural variation
- Multi-track genomic annotations
- Comparative genomics visualizations
- Integration with gene expression data
IGV & Genome Browsers
- Custom genome browser setup
- Multi-sample variant visualization
- RNA-seq coverage and splice junctions
- Batch screenshot generation
Specialized Genomic Plots
- Manhattan plots for GWAS studies
- Ideograms and karyotype plots
- Copy number variation plots
- Chromatin interaction maps
Multi-omics Integration
- Combined genomics and transcriptomics
- Epigenomics data visualization
- Proteomics and metabolomics integration
- Custom multi-layer visualizations
Frequently Asked Questions
What data formats do you work with?
+We work with standard formats including VCF, BAM/SAM, BED, GFF/GTF, BigWig, and various genomic annotation formats. We can also convert between formats as needed.
Can you handle large-scale genomic datasets?
+Yes, we use efficient data processing pipelines and visualization strategies optimized for large datasets, including data sampling, aggregation, and interactive approaches for genome-wide studies.
Do you create custom genome browsers?
+Absolutely! We can create custom genome browsers using tools like JBrowse, IGV.js, or completely custom solutions tailored to your specific genomic data and visualization requirements.
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Ready to visualize your genome data? Let's create compelling genomic visualizations.
Request Genomic VisualizationCustom Data Exploration Tools
Develop custom interactive tools and applications for biological data exploration, analysis workflows, and collaborative research platforms tailored to your specific research needs.
Service Overview
Create bespoke data exploration platforms that enable researchers to interactively analyze, visualize, and interpret complex biological datasets through intuitive interfaces and powerful analytical capabilities.
Tool Development Services
Interactive Analysis Tools
- Custom filtering and subsetting interfaces
- Real-time statistical analysis
- Dynamic plot generation and customization
- Data export and report generation
Web-Based Platforms
- Multi-user collaboration features
- Secure data handling and privacy
- Integration with existing databases
- Mobile-responsive design
Workflow Integration
- API development for tool connectivity
- Pipeline integration and automation
- Version control and reproducibility
- Custom plugin development
User Experience & Support
- Intuitive user interface design
- Comprehensive documentation
- Training and onboarding support
- Ongoing maintenance and updates
Frequently Asked Questions
What technologies do you use for development?
+We use modern web technologies including React, Vue.js for frontend, Python/Django, R/Shiny for backend, and can integrate with databases, APIs, and cloud services as needed.
Can you integrate with existing systems?
+Yes, we specialize in creating tools that integrate seamlessly with existing laboratory information systems, databases, and analysis pipelines through APIs and data connectors.
Do you provide long-term support?
+Absolutely! We offer maintenance plans including bug fixes, security updates, feature enhancements, and technical support to ensure your tools remain functional and current.
Get Started
Ready to build custom exploration tools? Let's create your perfect analysis platform.
Start Tool DevelopmentR/Python Programming for Bioinformatics
Comprehensive training programs in R and Python programming specifically tailored for bioinformatics applications, from basic programming to advanced data analysis and visualization.
Training Overview
Master R and Python programming through hands-on bioinformatics-focused training that combines programming fundamentals with real-world biological data analysis scenarios and best practices.
Training Programs
R Programming Track
- R fundamentals and RStudio proficiency
- Bioconductor packages and workflows
- Advanced data visualization with ggplot2
- Statistical analysis for biological data
Python Programming Track
- Python basics and Jupyter notebooks
- Pandas, NumPy for data manipulation
- Biopython for sequence analysis
- Matplotlib/Seaborn visualization
Bioinformatics Applications
- Sequence analysis and alignment
- Gene expression data analysis
- Phylogenetic analysis workflows
- Machine learning for biological data
Training Format Options
- Individual one-on-one sessions
- Group workshops (5-15 participants)
- Online interactive training modules
- Custom corporate training programs
Frequently Asked Questions
Do I need prior programming experience?
+No prior experience required! We offer beginner-friendly courses that start from basics. We also have advanced tracks for experienced programmers wanting to specialize in bioinformatics applications.
How long are the training programs?
+Programs range from 2-day intensive workshops to 8-week comprehensive courses. We customize duration based on your goals, schedule, and current skill level.
Do you provide training materials and certificates?
+Yes! All participants receive comprehensive training materials, code examples, datasets, and completion certificates. Materials remain accessible for future reference and practice.
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Ready to master bioinformatics programming? Let's build your coding skills.
Enroll in TrainingNGS Data Analysis Workshops
Intensive hands-on workshops covering next-generation sequencing data analysis workflows, from raw data processing to biological interpretation and publication-ready results.
Workshop Overview
Learn comprehensive NGS data analysis through practical, hands-on workshops that cover the complete pipeline from quality control to biological interpretation using industry-standard tools and best practices.
Workshop Topics
DNA Sequencing Workflows
- Whole genome sequencing analysis
- Exome sequencing variant calling
- Targeted sequencing panel analysis
- Copy number variation detection
RNA Sequencing Analysis
- Differential expression analysis
- Functional enrichment workflows
- Single-cell RNA-seq fundamentals
- Alternative splicing analysis
Specialized Applications
- Metagenomics analysis pipelines
- ChIP-seq and ATAC-seq analysis
- Long-read sequencing workflows
- Multi-omics integration approaches
Technical Skills
- Command line and HPC usage
- Quality control and preprocessing
- Statistical analysis and visualization
- Reproducible workflow development
Frequently Asked Questions
What is the workshop format?
+Workshops are highly interactive with 70% hands-on analysis using real datasets. Each participant works through complete analysis pipelines with guided instruction and troubleshooting support.
What computational resources are provided?
+We provide access to cloud computing environments with pre-installed software and sample datasets. No need to install complex bioinformatics tools on your local machine.
Can I bring my own data for analysis?
+Advanced workshops include sessions for analyzing participant data with personalized guidance. We recommend starting with provided datasets for foundational workshops.
Statistical Analysis Training
Comprehensive training in statistical methods for biological research including experimental design, hypothesis testing, and advanced statistical modeling for genomics and bioinformatics applications.
Training Overview
Master statistical concepts and methods essential for biological research through practical training that combines theoretical foundations with hands-on application to real biological datasets.
Training Modules
Fundamental Statistics
- Descriptive statistics and distributions
- Hypothesis testing and p-values
- Confidence intervals and effect sizes
- Multiple testing corrections
Experimental Design
- Power analysis and sample size calculation
- Randomization and blocking strategies
- Control and treatment design
- Bias reduction techniques
Advanced Methods
- Linear and generalized linear models
- Mixed effects models
- Survival analysis techniques
- Bayesian statistical approaches
Bioinformatics Applications
- Differential expression statistics
- GWAS analysis methods
- Microbiome statistical analysis
- Machine learning for biology
Frequently Asked Questions
Do I need a strong math background?
+Basic algebra and calculus knowledge is helpful but not required. We focus on conceptual understanding and practical application rather than mathematical derivations.
Which software tools are covered?
+Primary focus on R and Python for statistical analysis, with coverage of specialized tools like SPSS, SAS, or GraphPad Prism based on participant needs and preferences.
Is this suitable for manuscript preparation?
+Absolutely! We cover proper statistical reporting, figure preparation, and how to communicate statistical results effectively in scientific publications.
Get Started
Ready to master biostatistics? Let's strengthen your statistical foundation.
Start Statistical TrainingResearch Strategy Consulting
Strategic consulting services for research planning, experimental design, technology selection, and project management to optimize research outcomes and resource allocation.
Consulting Overview
Navigate complex research decisions with expert guidance on study design, technology choices, resource planning, and strategic positioning to maximize the impact and success of your research projects.
Consulting Services
Research Strategy
- Project feasibility assessment
- Research question refinement
- Technology selection guidance
- Competitive landscape analysis
Experimental Design
- Study design optimization
- Statistical power analysis
- Sample size recommendations
- Quality control protocols
Project Management
- Timeline and milestone planning
- Resource allocation strategies
- Risk assessment and mitigation
- Team coordination protocols
Strategic Planning
- Grant writing strategy
- Publication planning
- Collaboration opportunities
- Technology transfer guidance
Frequently Asked Questions
What types of projects do you consult on?
+We work with academic research projects, biotech startups, pharmaceutical companies, and government agencies on projects ranging from basic research to translational studies and clinical applications.
How do you ensure confidentiality?
+All consulting engagements begin with comprehensive non-disclosure agreements. We maintain strict confidentiality protocols and can work within existing institutional or corporate security frameworks.
What is the typical engagement duration?
+Engagements range from single-day strategic sessions to multi-month project support. We customize the scope and duration based on your specific needs and project complexity.
Get Started
Ready to optimize your research strategy? Let's discuss your project goals.
Schedule ConsultationResearch Interests
Genomics & Proteomics
Developing computational methods for analyzing large-scale genomic and proteomic datasets
Machine Learning in Biology
Applying AI/ML techniques to predict protein structure, function, and drug interactions
Systems Biology
Modeling complex biological networks and pathways using computational approaches
Publications
Integrative immunoinformatics and molecular simulation-based design of a multi-epitope vaccine against hepatitis C virus
Dharmendrasinh F. Rao, Taral Patel, Saumya K. Patel, Himanshu A. Pandya
In Silico Research in Biomedicine
DOI: 10.1016/j.insi.2025.100029
View PaperProjects
Read2Ring
A lightweight, cross-platform Bash pipeline that downloads SRA data, classifies with Kraken2, and visualizes taxonomic output with Krona.
DeepGenePredictor
DeepGenePredictor is a machine learning project aimed at predicting gene expression levels using a deep neural network. The project leverages PyTorch for building and training the model, and sklearn for data preprocessing and evaluation.
Genomic-Insights
Genomic Insights is an interactive Jupyter-based tool for exploring and analyzing genomic data. It enables visualization, annotation, and interpretation of genetic variants for research and diagnostics.
Decoding-SRR29492069-Comprehensive-Gene-Annotation-via-WGS
A comprehensive pipeline for gene annotation using Whole Genome Sequencing (WGS) data, from raw data retrieval to functional annotation with BLASTX and PANTHER. Designed for Linux systems, it supports de novo assembly and quality control using open-source tools.
EndoE2-Prognostica
A bioinformatics study investigating estradiol-regulated miRNA-mRNA networks as prognostic biomarkers for endometrial cancer. Identified 6 differentially expressed miRNAs and 87 mRNAs with validated regulatory pairs showing exceptional prognostic performance (HR: 17.92, p < 0.001) in TCGA-UCEC cohort validation.