Dr Peter Freeman is a Lecturer in Healthcare Sciences (Clinical Bioinformatics, Genomics) at the University of Manchester. His work sits at the intersection of genomics, research software engineering and data standards, with a particular focus on improving the accuracy, interoperability and reuse of genomic variant data.

He is the creator and lead developer of VariantValidator (https://variantvalidator.org/), an open-source platform for validating and formatting genomic sequence variant descriptions. He began developing VariantValidator after moving into bioinformatics in 2016. His research focuses on addressing the challenges that arise when genomic information needs to be accurately represented in clinical reports, scientific literature and databases, ensuring that genomic data remain consistent, interoperable and reusable throughout their lifecycle. VariantValidator is now used globally by clinical laboratories, researchers, databases and scientific publishers to improve the accuracy and standardisation of genomic variant data.

A major theme of his work is genomic data standardisation and the implementation of FAIR (Findable, Accessible, Interoperable and Reusable) data principles in genomics. Accurate and standardised descriptions of genomic variation are essential if genomic data are to be reliably exchanged, integrated and reused across clinical and research environments. His work bridges the development of genomic standards with their practical implementation through research software, helping to translate international recommendations into tools that can be incorporated into real-world research and clinical workflows.

He contributes to international efforts to improve standards for the reporting and exchange of genomic variation through the HUGO Reporting of Sequence Variants Committee and the ACMG Technical Standards for Reporting and Sharing of Interpreted Genomic Variation Working Group. He previously served on the HUGO HGVS Variant Nomenclature Committee. Through these activities, he contributes to the development and implementation of international standards designed to improve the consistency and interoperability of genomic data.

He is the Lead Technical Editor for Genetics in Medicine and Genetics in Medicine Open, where he contributes specialist expertise in genomic variant nomenclature and technical reporting standards. This work forms part of his broader interest in improving the accuracy, reproducibility and interoperability of genomic information in the scientific literature.

He also engages with wider policy and evidence activities, bringing his expertise in genomics and bioinformatics to discussions beyond academia and contributing evidence to inform policy and strategic decision-making.

Alongside his research, he teaches clinical bioinformatics and genomics within the NHS Scientist Training Programme (STP), including leadership of teaching in Software Engineering and Diagnostic Sequencing. His teaching has a strong focus on practical, applied learning and on developing the software engineering skills required by the next generation of clinical scientists.

He is a Senior Fellow of the Higher Education Academy. He holds a PhD in Genetics from the University of Leicester and a BSc (Hons) in Molecular Biology from the University of Manchester. His earlier research career included work in empirical genome analysis and next-generation sequencing before he transitioned into bioinformatics and research software development in 2016.

VariantValidator was highlighted as World-Leading research in REF 2021, reflecting the reach and impact of this work beyond traditional academic research outputs.

He welcomes collaborations with researchers, clinicians, research software engineers, data infrastructure providers and standards organisations working on genomic variant representation, genomic data quality and interoperability, FAIR data, research software and clinical bioinformatics.

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