Bioinformatics & Biostatistics

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.

Omics & data visual

Services

Clear scope, reproducible execution, and concise reporting. Pick one or mix & match.

Genomics & variant analysis

Whole genomes and panels: variant discovery, interpretation, concise reporting, and handover materials for teams.

WGS/WESVariant analysisReporting

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 Package

Modular, documented pipeline components with example configuration files, installation instructions, and maintainable code structure. Each workflow is version-controlled and tested, ensuring reproducibility across environments.

  • Documented code with inline comments
  • Example configuration and parameter files
  • Dependency lists and environment specs
  • Testing scripts and validation datasets
ModulesDocsConfigs

Analysis Report

Comprehensive analysis from dataset QC through final results and figures. Includes interactive notebooks, publication-ready visualizations, and a concise PDF summary designed for stakeholders who need clear insights without technical depth.

  • Quality control metrics and filtering summaries
  • Statistical results with effect sizes and confidence intervals
  • High-resolution figures for presentations and publications
  • Executive summary for non-technical audiences
QCFiguresSummary

Advisory Memo

Strategic audit of existing workflows or project architecture with prioritized recommendations. Includes technical notes, suggested fixes, and a clear roadmap for next steps, ensuring smooth handover and internal capacity building.

  • Current state assessment and bottleneck identification
  • Prioritized improvement recommendations
  • Architectural guidance and best practices
  • Implementation roadmap and timeline
AuditRoadmapHandover

How we use AI

  • Applied only when it improves accuracy, speed, or clarity for your use-case.
  • No client data sent to public models without written consent; private/self-hosted options available.
  • Human expert in the loop; methods and parameters documented for full reproducibility.
  • Clear model reports (data used, validation, limitations); you own the outputs and IP.
Portrait of Mauro Truglio
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.