Barry Moore

3417 S. Crestwood Dr. Millcreek, UT 84109</br> bmoore@fabricgenomics.com | (801) 243-8819 | LinkedIn: barrymoore66 | barrymoore.bio

PROFESSIONAL SUMMARY

Senior Scientist, Precision Genomics at Fabric Genomics, with over two decades of experience in genome informatics, clinical genomics, and rare disease diagnostics. Longtime co-developer of foundational tools including VAAST, VVP, Phevor, and the GEM AI platform, with deep expertise in building scalable NGS analysis workflows and AI-enabled interpretation systems. Fluent across genomics, software engineering, and clinical application, with a track record of translating complex genomic data into actionable insights for patients and healthcare providers. Known for cross-disciplinary collaboration, technical leadership, and delivering innovative solutions that bridge research and clinical practice.

CORE COMPETENCIES

• Clinical Genomics & Rare Disease Diagnostics – End-to-end expertise in genome interpretation, variant prioritization, and integration of WGS/RNASeq into clinical workflows.

• Bioinformatics Software & Pipeline Development – Design, implementation, and optimization of scalable NGS analysis pipelines with Nextflow, Snakemake, and custom frameworks; extensive experience with GATK, Sentieon, Dragen, and GEM.

• AI-Enabled Genome Interpretation – Co-developer of the GEM AI platform; deep experience building and curating training datasets, algorithm refinement, and integration with clinical decision support tools.

• Cross-Disciplinary Collaboration & Leadership – Proven ability to bridge genomics, software engineering, and clinical application; mentor to clinicians, analysts, postdocs, and engineers; recognized for delivering complex projects across research and industry teams.

• Data Science & Systems Integration – Deep domain expertise in genomic reference datasets, with advanced skills in EHR-based NLP and phenotype-driven analysis. Extensive experience integrating this data into genomic and clinical diagnostic workflows, supported by a strong background in Linux, HPC, and cloud computing.

• Scientific Communication & Training – Experienced instructor at Cold Spring Harbor Laboratory and other international courses; frequent collaborator on high-impact publications and grants.

EXPERIENCE

Senior Scientist, Precision Genomics Fabric Genomics | 2025 – Present

• Lead development of clinical-grade genomics workflows and AI-enabled variant interpretation systems, with a focus on rare disease diagnostics and scalable, cost-efficient analysis pipelines.
• Build on over 15 years of prior collaboration with Fabric to refine and expand the GEM AI platform, VAAST/VVP variant prioritization stack, and phenotype-driven analysis tools.
• Partner with cross-functional teams, including GeneDx collaborators, to integrate advanced analysis capabilities into production pipelines for clinical reporting.
• Mentor analysts, bioinformaticians, and software engineers in best practices for genomic data analysis, pipeline optimization, and reproducibility.
• Drive innovation at the intersection of software engineering, bioinformatics, and clinical genomics to deliver actionable insights that directly support patient care.

Senior Consultant Fabric Genomics (formerly Omicia) | 2009 – 2025

• Long-term contributor to the GEM AI platform and full gene/variant prioritization stack.
• Built and curated all major training datasets for VAAST/VVP/Phevor/GEM.
• Supported collaborations with Genomics England, Rady Children’s, GeneDx, ONT and other Fabric partners.
• Built NGS secondary (variant calling) frameworks for Fabric and key customers based on GATK, Sentieon and Dragen.

Director of Research and Science Utah Center for Genetic Discovery, University of Utah | 2014 – 2025

• Leadership role in the analytical arm of NeoSeq and GeneKids projects focused on rapid whole genome interpretation for critically ill children.
• Developed clinical interpretation pipelines and SOPs for research-clinical integration of WGS and RNASeq data.
• Created tools like PhenVen for HPO-driven phenotype matching supporting of WGS/RNASeq diagnostics.
• Led RNASeq-based reanalysis efforts to improve diagnostic yield.
• Mentored clinicians, postdocs, graduate students, and analysts across genomics teams.

Research Scientist Department of Human Genetics, University of Utah | 2006 – 2014

• Designed and implemented scalable & repeatable WGS pipelines for disease gene discovery.
• On the development team multiple tools (VAAST, VVP, Phevor) adopted in genomic analysis and deployed them in analysis of dozens of large genomic datasets - large and small.
• Led bioinformatics support across collaborations with ARUP, Regeneron, Clinithink, Childhood Liver Disease Research Network and more.

Senior Research Specialist Department of Human Genetics, University of Utah | 1994 – 2006

• Self-directed transition from molecular biology to genome informatics during the early genomic era.
• Managed lab operations, trained junior researchers, and built early genome analysis tools.
• Key member of multiple large-scale genomic research initiatives.
• Instructor in numerous CSHL bioinformatics and NGS sequencing courses.

EDUCATION & TRAINING

• M.S., Biology (Molecular Biology & Systematics), Loma Linda University, 1993
• B.S., Chemistry, Southwestern Adventist University, 1990
• Genome Informatics, Cold Spring Harbor Laboratory, 2003
• Summer Institute in Statistical Genetics, University of Washington, 2010

SELECTED PUBLICATIONS

• Reese et al., Genome Biology, 2010: Standard Variation File Format
• Yandell et al., PLoS Comp Biol, 2008: Disease Alleles in Paralogous Proteins
• Eilbeck et al., BMC Bioinformatics, 2009: Quantitative Measures for Genome Annotation
• Moore et al., Genet Med, 2011: Variation in 10 Healthy Genomes and Diagnostic Implications
• Hu et al., Genet Epidemiol, 2013: VAAST 2.0 Variant Classification
• Flygare et al., BMC Bioinformatics, 2018: VAAST Variant Prioritizer (VVP)
• De La Vega et al., Genome Med, 2021: AI-Enabled Genome Interpretation
• Moore et al., Genet Med Open, 2023: RNASeq Resolves NEB Variant in Nemaline Myopathy
• Jenkins et al., NPJ Genom Med, 2025: Utah NeoSeq Program in NICU Genomic Diagnostics

Full list of 76 publications available on request or Google Scholar - https://bit.ly/3IKbfLV</br> Citation metrics (Google Scholar, July 2025): h-index = 31, i10-index = 41, total citations = 6,522

TOOLS & TECHNOLOGIES

• Languages: Perl, Python, JavaScript, SQL
• Linux Admin & Power Tools: Bash, screen/tmux, git, emacs, cron/at, find, parallel/xargs, sed/awk/CLI Perl, VisiData, jq, sqlite3, rclone/rsync
• Workflow Systems: Nextflow, Snakemake, custom scripting
• Cloud/Infra: AWS, Docker, Linux HPC clusters
• Bioinformatics Tools: GATK, Sentieon, Dragen, samtools, bcftools, bedtools, htslib, vcfanno, GEM, VAAST, VVP, Phevor
• Data Analysis/Presentation: iPython/Jupyter, numpy, Pandas, scipy, matplotlib/Seaborn/Plotly, custom dashboards & worksheets using JavaScript, DataTables, HTML/CSS, XlsxWriter, Markdown

PATENTS

US Patent Application No. US20230326547A1 Systems and Methods for Prioritizing Genome Variants. Filed October 2023. Co-inventor. https://patents.google.com/patent/US20230326547A1

References available upon request.