プロフィール詳細

プロジェクトを作成

★★★★★

☆☆☆☆☆

★★★★★

☆☆☆☆☆

Paulo N.に依頼

Canada

Senior PhD Bioinformatician — clinical NGS pipelines, variant calling, RNA-seq, QC & cloud (15+ yrs)

プロフィール概要

I help biotech, pharma, diagnostic, and research teams turn sequencing data into reliable, reproducible answers — delivering the whole pipeline end to end, from raw data to a validated, defensible result. I'm a PhD bioinformatician with 15+ years building production NGS systems, including a decade inside a CAP-accredited clinical genetics laboratory where reproducibility, QC, and documentation aren't optional. I design, build, and validate end-to-end genomic analysis pipelines — germline and somatic variant calling, CNV, mtDNA, RNA-seq, and single-cell — in Python on AWS and HPC, with rigorous testing, version control, containerization, and audit-ready reporting. What I bring that's hard to find in one person: Clinical-grade rigor — pipeline validation, QC thresholds, and CAP/AMP-style reporting built for environments where the result has to hold up to scrutiny. Open-source credibility — a core developer of WormBase and the Alliance of Genome Resources since 2014, with consortium publications in Genetics and Nucleic Acids Research: a decade of public, peer-reviewed proof that I build genomics infrastructure that lasts. Modern stack, including AI — AWS (Lambda, Bedrock, RDS, ECR), Docker, ClickHouse, plus AI-native tooling like LLM-powered annotation assistants and RAG pipelines for variant interpretation. Typical engagements: building or validating an NGS/variant-calling pipeline, bringing an assay into reproducible production, designing cloud or HPC analysis infrastructure, reference-database and annotation work, mitochondrial/mtDNA analysis, or expert review of an existing analysis or study design. Because I build complete systems independently, you get a finished, validated deliverable from one accountable expert — not a fragment that needs an in-house team to complete. If you have a sequencing problem you need solved properly the first time, I'd be glad to scope it with you.

専門分野

• ☆ Python
• ☆ SQL
• ☆ Excel
• ☆ Tensorflow
• ☆ LaTex
• ☆ Scikit-learn
• ☆ Markup Languages
• ☆ Health Technology Assessment
• ☆ Quality Assurance & Quality Control (QA/QC)
• ☆ Software Development
• ☆ Software QA & Testing
• ☆ Desktop Application Development
• ☆ Web Application Development
• ☆ Cloud Application Development
• ☆ DevOps
• ☆ UI/UX Design
• ☆ Hypothesis
• ☆ Peer Review
• ☆ Research Methodology
• ☆ Survey Design & Methodology
• ☆ Feasibility Studies
• ☆ Literature Search
• ☆ Instructional Webinars
• ☆ Skills Training
• ☆ Technical & Scientific Writing
• ☆ Journal Selection
• ☆ Manuscript & Journal Article Writing
• ☆ Instructional Materials
• ☆ Release Notes
• ☆ SOP & Protocol Writing
• ☆ Spec Sheets
• ☆ Case Studies
• ☆ Science Communication
• ☆ Literature Review
• ☆ Systematic Literature Review
• ☆ Scientific Proofreading & Editing
• ☆ Language Translation
• ☆ Course Content Writing
• ☆ Grant Writing

サービス

• Writing

Writing Technical Writing, General Proofreading & Editing, Translation

職務経験

Laboratory Scientist III

Alberta Precision Laboratories

1月 2015 - 現在

Consultant/Owner

Bioinformat

8月 2012 - 現在

学歴

PhD (IB-Biologia)

Universidade de Sao Paulo Campus da Capital

8月 1998 - 12月 2002

MSc (IB-Biologia)

Universidade de Sao Paulo Campus da Capital

3月 1996 - 6月 1998

BSc Biology

Universidade de São Paulo

1月 1991 - 12月 1995

認定資格

• 認定資格の詳細は未入力です。