Genomics & variant analysis
Whole genomes and panels: variant discovery, interpretation, concise reporting, and handover materials for teams.
WGS/WESVariant analysisReporting
Bioinformatics & Biostatistics
From omics to decisions:
From omics to decisions:
results you can act on.
HelixData delivers expert bioinformatics and biostatistics services across the full computational biology stack.
Whether you're running genomic variant discovery in a clinical lab, profiling microbiome communities for translational research, or building reproducible pipelines for a biotech startup, we provide the technical depth and clarity you need to move from raw data to confident decisions.
Our approach is rooted in three principles: reproducible methods, transparent communication, and actionable deliverables. We support labs, clinics, and emerging biotech companies with genomics, metagenomics, transcriptomics, methylome analysis, proteomics, structural bioinformatics, pipeline engineering, and publication-ready reporting. Every project includes documented workflows, clear summaries, and results your team can immediately use and build upon.
What we cover
Genomics
Metagenomics
Transcriptomics
Methylome
Pipelines
Web apps
Zero‑fluff
Fast, reproducible, readable.
This space can host a subtle illustration or background image later.
Services
Clear scope, reproducible execution, and concise reporting. Pick one or mix & match.
Metagenomics & microbiome
Community profiling, resistome characterization, and actionable summaries with clear figures and dashboards.
TaxonomyResistomeVisualisation
Transcriptomics
Bulk and single‑cell workflows: QC, normalization, differential analysis, and pathway interpretation.
BulkscRNA‑seqPathways
Methylome & epigenomics
Array and sequencing‑based methylation: QC, deconvolution, DMP/DMR analysis, integrative modeling with phenotypes.
ArraysDMRIntegration
Proteomics, structural bioinformatics & molecular docking
Protein identification/quantification, structure analysis and modeling, and ligand–receptor docking with clear, interpretable reports.
ProteomicsStructureDocking
Pipeline building & management
Design, implement, and maintain reproducible workflows with versioning, documentation, and environment control.
ReproducibleDocumentedPortable
Web apps & services
Front‑ and back‑end for dashboards, portals, and APIs to share results securely with collaborators.
FrontendBackendAPIs
Study design, biostatistics & reporting
Experimental design, appropriate tests, effect sizes and CIs, and publication‑ready figures and narratives.
DesignAnalysisReports
Publication, patent & grant support
Assistance with figures, methods, and responses to reviewers for high‑impact journals, competitive funding calls, and patents.
FiguresMethodsRevisions
Deliverables
Three clear outputs, packaged for handover and reuse.
Workflow
Modular pipeline components with documentation, example configs, and maintainable structure.
ModulesDocsConfigs
Analysis
Dataset QC → results → figures, plus notebooks and a concise PDF summary for stakeholders.
QCFiguresSummary
Advisory
Audit memo with prioritized fixes, architecture notes, and next steps for your team.
AuditRoadmapHandover
Mauro Truglio
Bioinformatician & Biostatistician
About
I'm a bioinformatician and biostatistician with over a decade of experience working across Europe, Oceania, and the United States. I've built and maintained genomics pipelines for clinical labs, developed proprietary testing platforms for precision medicine, and created analysis workflows for research institutions worldwide.
My work covers the full computational biology stack—from NGS data processing and variant discovery to AI modeling and web application development. I've developed NIPT platforms, microbiome analysis pipelines, and containerized workflows that labs can deploy and maintain independently. With over 40 publications in peer-reviewed journals and hundreds of industrial collaborations spanning clinical diagnostics, biotech startups, and pharmaceutical research, I've also served as a guest speaker at research institutes and taught courses at universities, bridging the gap between computational methods and practical applications.
Whether it's a clinical diagnostic pipeline or a research collaboration, I focus on delivering reproducible workflows and complete handover materials so teams can build on the work long after projects conclude.
Contact
Start with a short brief. Send us an overview of your project—goals, data types, timelines, and any specific challenges. We'll respond promptly with a clear scope, deliverables breakdown, and realistic timeline. Most projects begin with a brief consultation call to ensure alignment and set expectations.
info@helixdata.bio