Dr. Peter John Freeman (Previously Causey-Freeman) is a Lecturer in Healthcare Sciences (Clinical Bioinformatics and Genomics) at the University of Manchester, UK, and an Honorary Lecturer in Genomic Bioinformatics at the University of Leicester. His research focuses on translational bioinformatics, with a particular emphasis on improving the accuracy, robustness, and interoperability of genomic variant data used in clinical diagnostics and biomedical research.

Dr. Freeman leads the development of VariantValidator, a free and open-source software tool that validates, maps, and formats genomic sequence variant descriptions. VariantValidator is widely regarded as the most accurate tool of its kind and is endorsed by leading international organisations, including the Human Genome Variation Society (HGVS), the European Molecular Genetics Quality Network (EMQN), the World Health Organization’s International Agency for Research on Cancer, and working groups within the Human Genome Organisation (HUGO) and the American College of Medical Genetics (ACMG). The tool underpins global efforts to implement FAIR (Findable, Accessible, Interoperable, and Reproducible) data standards in genomics and is integrated into diagnostic pipelines, ELIXIR-UK services, and journal peer-review systems to enhance the quality of published genomic data.

Dr. Freeman’s work on variant nomenclature has substantial clinical impact. By standardising the naming of sequence variants, VariantValidator supports clinicians in rapidly identifying relevant genetic data across literature and databases, reducing diagnostic delays in rare genetic diseases. This work addresses the “diagnostic odyssey,” where patients often wait years for a molecular diagnosis. Dr. Freeman is actively engaged in advocacy to improve support for patients and families navigating genetic conditions.

In addition to his research, Dr. Freeman is an experienced educator within the NHS Scientist Training Programme (STP), where he leads the units in Software Engineering and Diagnostic Sequencing, including specialist foundation modules. His teaching integrates clinical bioinformatics with practical genomics training, and his pedagogical publications reflect a commitment to immersive, applied learning in bioscience and informatics.

Dr. Freeman holds a PhD in Genetics from the University of Leicester (2007) and a BSc (Hons) in Molecular Biology from the University of Manchester (2002). He became a Senior Fellow of the Higher Education Academy in 2024. His earlier career included postdoctoral research in empirical genome analysis and next-generation sequencing methodology before transitioning into bioinformatics in 2015.

He has been recognised internationally for his contributions to genomic standards. Since 2020, Dr. Freeman has served on the HUGO Reporting of Sequence Variants Working Group and on the “Standards for journals, authors and clinical laboratories for the reporting and sharing of interpreted genomic variation” working group from ACMG in collaboration with ASHG, ACGS, AMP, CCMG, CAP, EMQN, and HUGO. He is also a Senior Technical Editor for the journals Genetics in Medicine and Genetics in Medicine Open, where he develops authorship and technical editing guidelines to improve the reporting of clinical genomic data. In 2025, he was appointed to the Open University Validation Panel (OUVP), further reflecting his expertise in genomic data quality.

VariantValidator was highlighted as World-Leading research in the REF 2021, and Dr. Freeman has presented his work at international conferences, including the 12th Annual Oligonucleotide Networking Event, Next Gen Omics, and RENOMIEII, and contributed to educational and policy initiatives around variant nomenclature and FAIR data standards.

Through a combination of research, teaching, software development, and editorial leadership, Dr. Freeman aims to bridge the gap between computational genomics and clinical practice, ensuring that genomic information is both accurate and actionable for clinicians, researchers, and patients alike.

Unit lead

• Online postgraduate certificate in Clinical Bioinformatics . Unit 3: Introduction to Programming for Clinical Bioinformatics
• NHS Scientist Training Programme (STP), Software Engineering
• NHS Scientist Training Programme (STP), Diagnostic Sequencing
• NHS Scientist Training Programme (STP), Foundation in Software Engineering and Diagnostic Sequencing

Unit lecturer

• Online postgraduate certificate in Clinical Bioinformatics, Unit 1: Introduction to Clinical Bioinformatics
• Online postgraduate certificate in Clinical Bioinformatics, Unit 4: Introduction to Next Generation Sequencing
• STP, Introduction to Clinical Bioinformatics
• STP, Cancer Genomics

Senior Fellow of the Higher Education Academy (SFHEA)

Senior Technical Editor at Genetics in Medicine and Genetics in Medicine Open

Member of:

• Up to 2024 - The Human Genome Variation Society (HGVS) Sequence Variant Description Working Group http://varnomen.hgvs.org/
• The Human Genome Organisation (HUGO) Reporting of Sequence Variants Working Group https://doi.org/10.1002/humu.24144
• The ACMG Technical Standards for Reporting and Sharing of Interpreted Genomic Variation Working

• https://research.manchester.ac.uk/en/publications/variantvalidator-a-novel-open-access-and-user-friendly-software-t
• https://www.manchester.ac.uk/about/news/cutting-corners-results-in-rare-genetic-diseases-being-undiagnosed-say-scientists/

Research Software output

https://variantvalidator.org/

http://rest.variantvalidator.org/

https://github.com/openvar