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@ACTN3Bioinformatics

ACTN3 Bioinformatics

ACTN3 Bioinformatics

Fast, Efficient, High-Performance Genomic Solutions

Named after the ACTN3 "Speed Gene" - We accelerate your discoveries

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🧬 AI-Powered Genomics📦 Production Pipelines🔬 Reproducible Research🚀 Open Source

Transforming raw sequencing data into clinical insights through modern bioinformatics workflows


💡 Why ACTN3?

The ACTN3 gene (the "Speed Gene") is associated with explosive muscle performance and athletic prowess. Just like this gene enables peak physical performance, ACTN3 Bioinformatics delivers fast, efficient, and high-performance genomic analysis solutions.

🎯 Our Mission

Accelerate drug discovery and precision medicine by providing:

  • Rapid turnaround - Days, not weeks
  • 🤖 AI-powered workflows - LLM-assisted analysis, automated QC
  • 🔬 Reproducible pipelines - Snakemake, Docker, CI/CD
  • 📊 Publication-ready - Quarto reports, GitHub repos, full documentation
  • Pharma-grade quality - 10+ years Biotech/Pharma experience

🌟 What Sets Us Apart

  • 📚 6 publications in top-tier journals (iScience, Clinical Cancer Research)
  • 🏢 Pharma expertise - Roche, Novartis standards
  • 🤝 Open source first - Contributing to pharmaverse
  • 🎓 R/Pharma 2025 - 11 workshop certifications
  • 🚀 Cutting-edge tech - AI/LLM, Positron IDE, Quarto

🚀 Featured Projects

Production-grade Snakemake pipeline transforming scRNA-seq CRISPR screens into balanced, harmonized datasets for AI/ML training

Key Features:

  • 🔄 Automated QC + normalization (Scanpy)
  • ⚖️ Smart class balancing for unbiased ML
  • 🔗 Batch integration (Harmony/BBKNN)
  • 🧬 Feature engineering (pathways, TF regulons)
  • 📊 Leave-genes-out cross-validation
  • 🐍 Python 3.10, Snakemake, Quarto

Performance: Processes 10k cells in ~15 minutes on laptop (AMD Ryzen 5 7535HS, 16GB RAM)

Impact: Virtual Cell Challenge 2025 submission showcasing production-ready bioinformatics engineering


Comprehensive Quarto knowledge base documenting R/Pharma 2025 conference workshops, trends, and best practices

Content Highlights:

  • 📝 19 workshop summaries (AI/LLM, Clinical Reporting, Validation, Bayesian Methods)
  • 🎤 30+ presentation summaries
  • 📈 Industry trend analysis (AI revolution, GSK's 50%+ R adoption)
  • 🛠️ Complete A-Z tools catalog (ellmer, gtsummary, teal, officer, etc.)
  • 💼 Career insights for R pharma professionals

Technologies: Quarto, RMarkdown, GitHub Actions, GitHub Pages

Recognition: Showcases expertise in modern documentation workflows and pharmaceutical R ecosystem


🛠️ Core Services

🧬 NGS Analysis

From FASTQ to Figures

  • RNA-seq (bulk & single-cell)
  • ChIP-seq, ATAC-seq, CUT&RUN
  • CRISPR/ORF screens
  • WGS/WES variant calling
  • scTCR/scBCR-seq
  • Spatial transcriptomics
  • Long-read (PacBio, Nanopore)

Format: Quarto reports + GitHub repo

📦 Pipeline Development

Production-Ready Workflows

  • Snakemake/Nextflow pipelines
  • Docker containerization
  • HPC optimization
  • CI/CD integration (GitHub Actions)
  • Automated testing & validation
  • Comprehensive documentation

Format: Reproducible code + pkgdown site

🤖 AI Integration

Modern AI-Powered Analysis

  • LLM-assisted code generation
  • Automated QC systems
  • ML-ready dataset preparation
  • Feature engineering
  • Multi-omics integration
  • Prompt engineering workflows

Format: Trained models + deployment scripts

📊 R Package Development

Bioconductor Standards

  • Custom package design
  • roxygen2 documentation
  • testthat unit testing
  • pkgdown websites
  • CRAN/Bioconductor submission
  • Validation documentation

Format: Fully documented package

📈 Interactive Dashboards

Shiny Applications

  • Real-time QC monitoring
  • Clinical data exploration
  • Drug response visualizations
  • Pathway enrichment browsers
  • GitHub Pages portfolios
  • Quarto knowledge bases

Format: Hosted app + source code

📖 Publication Support

From Analysis to Paper

  • Methods sections
  • Supplementary analyses
  • Publication-quality figures
  • Statistical consulting
  • Reproducible workflows
  • Data deposition (GEO/EGA)

Format: Camera-ready materials


💻 Technical Stack

Core Technologies

R Python Snakemake Docker Git Quarto

Bioinformatics Core

Bioconductor Seurat Scanpy scikit-learn

R/Bioconductor: limma, edgeR, DESeq2, fgsea, ComplexHeatmap, Seurat, crisprVerse, MAGeCK
Python: Scanpy, AnnData, PyTorch, TensorFlow, scikit-learn, Harmony, gseapy
Pipelines: Snakemake ≥7.0, Nextflow DSL2, Bash scripting
Reproducibility: Quarto, RMarkdown, knitr, pkgdown, GitHub Actions
Infrastructure: Docker, Conda/Mamba, HPC (Slurm), AWS/Azure
AI/LLM: ellmer, OpenAI API, Anthropic Claude, Prompt Engineering


📚 Research Impact

Proven Track Record

Publications Citations CRISPR Journals

Selected Publications

1. Transcription factor Zfx regulates tumor immune evasion | iScience (2025)
Role: CRISPR screen analysis (~160K sgRNAs), ChIP-seq, TCGA survival models
DOI

2. Transcriptional subtypes in lung adenocarcinoma | Clinical Cancer Research (2021)
Role: NMF subtype discovery, 113-gene PAM classifier (87-91% accuracy)
DOI Code

3. T cell-dependent bispecific therapy | Cancer Immunology Research (2024)
Role: NK cell RNA-seq, GSEA, pathway enrichment
DOI

📖 View All Publications on ORCID


🎯 Industry Alignment

We stay at the forefront of pharmaceutical bioinformatics trends:

2025 R/Pharma Key Insights

🤖 AI/LLM Integration

Status: Production-ready
Our Capability:

  • ✅ LLM-assisted code generation (ellmer, ChatGPT API)
  • ✅ Automated QC report generation
  • ✅ Prompt engineering workflows
  • ✅ Privacy-preserving implementations

Industry Evidence:

  • 8+ R/Pharma sessions on AI
  • GSK, Roche, Merck deploying AI systems
  • Regulatory acceptance growing

📊 Open Source Transformation

Status: Mainstream
Our Contribution:

  • ✅ Public GitHub repositories (VCC, R/Pharma Portal)
  • ✅ Pharmaverse-aligned workflows
  • ✅ Reproducible research standards
  • ✅ Community engagement

Industry Milestone:

  • GSK achieved 50%+ R code adoption
  • Pharmaverse thriving
  • SAS → R migration accelerating

✅ Regulatory Maturity

Status: Validated
Our Compliance:

  • ✅ 9+ years Roche/Genentech experience
  • ✅ ISO-compliant documentation
  • ✅ GxP-ready workflows
  • ✅ Reproducible audit trails

Regulatory Landscape:

  • FDA software neutrality established
  • R-based submissions routine
  • Validation frameworks standardized

🚀 Automation & Efficiency

Status: Production
Our Solutions:

  • ✅ Snakemake/Nextflow pipelines
  • ✅ CI/CD integration (GitHub Actions)
  • ✅ Automated testing & validation
  • ✅ Template-based reporting (Quarto)

Industry Impact:

  • CDISC ARS/ARM driving automation
  • TFL turnaround: weeks → days
  • AI-powered table generation

👤 Meet the Founder

Szymon Myrta
Founder & CEO

LinkedIn ORCID GitHub

Expertise

10+ Years in Pharma/Biotech

  • 🏢 Current: Bioinformatician
  • 📚 Publications: 6 peer-reviewed papers in iScience, Clinical Cancer Research, EMBO MM
  • 🎓 Education: Double MSc - MSc Bioinformatics (Silesian University), MSc Molecular Medicine (Cranfield University)

Core Competencies:

  • NGS Analysis (RNA-seq, scRNA-seq, ChIP-seq, CRISPR screens, WGS/WES)
  • AI/ML Integration (LLM APIs, scikit-learn, TensorFlow)
  • Pipeline Development (Snakemake, Nextflow, Docker, HPC)
  • R Package Development (Bioconductor standards, testing, documentation)
  • Clinical Bioinformatics (biomarker discovery, patient stratification)

Languages: English (Fluent), Polish (Native)


🌐 What Excites Us (2025 & Beyond)

🤖 AI in Bioinformatics:
  - LLM-assisted code generation & debugging
  - AI-powered variant annotation
  - Automated literature mining for pathway enrichment
  - Prompt engineering best practices

🧬 Multi-Modal Omics:
  - Spatial transcriptomics (10X Visium, Xenium)
  - Single-cell + proteomics + epigenomics integration
  - Multi-omic predictive modeling for precision medicine

🧪 Non-coding RNA:
  - lncRNA, miRNA, circRNA in cancer & development
  - Integration and correlation analysis (ncRNA ↔ mRNA)
  - Regulatory network reconstruction

⚙️ Software Development:
  - R package development (Bioconductor standards)
  - Positron IDE + Quarto for literate programming
  - Nextflow DSL2 + Wave containers for cloud scalability
  - Git-based collaboration for reproducible science

🎯 CRISPR & Functional Genomics:
  - Perturb-seq analysis pipelines
  - Base/prime editor screen optimization
  - Screen hit validation workflows

🏥 Precision Medicine:
  - Real-time clinical decision support systems
  - Pharmacogenomics + liquid biopsy integration
  - Patient-specific therapy modeling

💼 Why Work With Us?

Advantage Description
⚡ Speed Established pipelines ensure rapid turnaround (RNA-seq: 2-4 weeks, scRNA-seq: 4-8 weeks)
🏆 Quality Pharma-grade standards from 9+ years at Roche/Genentech
🤖 Modern AI/LLM integration, Positron IDE, Quarto documentation, cutting-edge methods
📚 Proven 6 publications in top journals, 800+ patients analyzed, 160K sgRNAs processed
🔬 Reproducible Full GitHub repos, Docker containers, CI/CD, comprehensive documentation
✅ Compliant ISO experience, GxP-ready workflows, validated pipelines, audit trails
🌐 Remote 9+ years remote work experience, international teams, flexible time zones
🤝 Collaborative Contributing to pharmaverse, open-source first, knowledge sharing

📫 Let's Collaborate

Ready to accelerate your genomic discoveries?

We're available for:

  • 🧬 Contract NGS analysis projects (4-20 weeks)
  • 📦 Custom R package development (4-12 weeks)
  • ⚙️ Production pipeline engineering (4-12 weeks)
  • 🤖 AI/ML integration consulting (6-16 weeks)
  • 📊 Interactive Shiny dashboard creation (4-6 weeks)
  • 📖 Publication support (methods, figures, analyses)
  • 🎓 Training & workshops (R/Bioconductor, reproducible research)

Contact Us

Website Portfolio LinkedIn

Company Email: kontakt@actn3.pl Personal Email: szymon.myrta@gmail.com
Response Time: Within 24 hours


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ACTN3 Bioinformatics

⚡ ACTN3 Bioinformatics - Where Speed Meets Science

"Transforming genomic data into insights through reproducible pipelines and AI-powered workflows"


📄 License

All public repositories are licensed under the MIT License unless otherwise specified.


⭐ If you find our work valuable, please star our repositories!

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  1. VCC-project VCC-project Public

    A reproducible computational pipeline for processing and analyzing single-cell RNA-seq data with CRISPR perturbations (Perturb-seq), designed for the Virtual Cell Challenge 2025. Features automated…

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  2. R-Pharma-2025-Workshops R-Pharma-2025-Workshops Public

    Comprehensive documentation of R/Pharma 2025: 19 workshops, 30+ presentations, trend analysis, tools catalog, and career insights. Built with Quarto.

    CSS 1

  3. .github .github Public

    Transforming raw sequencing data into clinical insights through modern bioinformatics workflows

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