Dr Peter Causey-Freeman

Lecturer in Healthcare Sciences (Clinical Bioinformatics)

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Peter Causey-Freeman is a lecturer and researcher in Healthcare sciences specialising in medical genomics (bioinformatics) at the University of Manchester. He works in the Division of Informatics, Imaging and Data Sciences and the Integrated Interdisciplinary Innovations in Healthcare Science Hub. He also teaches in the Manchester Academy for Healthcare Science Education on the NHS Scientist Training Programmes, primarily in clinical genomics bioinformatics.

After completing his PhD in 2007 at the University of Leicester, he became a post-doctoral researcher at Leicester specialising in empirical genome analysis techniques and developing novel methods to improve Next Generation Sequencing techniques.

In February 2015, he switched career paths from laboratory work into the bioinformatics space. He developed genomic sequence variant nomenclature software called VariantValidator. In June 2018 he was awarded a Wellcome Trust ISSF fellowship to continue the development of VariantValidator. VariantValidator is endorsed as a gold-standard sequence variant description tool by ten of the world’s leading biomedical journals including Human Mutation and Genetics in Medicine. The software is also being integrated into genomics analysis pipelines including packages created by the Global Alliance for Genomics and Health, UKs NHS, and software platforms such as LOVD and Quality Assurance pipelines in the Genomics Medicine space.

In March 2019 he moved to the University of Manchester to apply his experience genomic sequence variation analysis towards teaching and ongoing reaearch in the clinical genomics bioinformatics space. He remains the lead-developer of VariantValidator. His other research areas include transcriptomics analysis and improving the standard of sequence variant reporting and interpretation.

In late 2018, Peter was made a full member of the HGVS Sequence Variant Nomenclature working group. He is also a member of the GA4GH working groups in Variant Reporting and Variant Analysis. He was also awarded an honorary lectureship at the University of Leicester where he actively contributes to ongoing research in the genomics space.

Global Alliance For Genomics and Health Variant Representation Team 

Global Alliance For Genomics and Health Variant Annotation Team 

Memberships of committees and professional bodies

Member of:

  • The Association for Clinical Genomic Science (ACGS)
  • The Human Genome Variation Society (HGVS)
  • The HGVS Sequence Variant Description Working Group

Human Genome Variation Society Sequence Variant Description Working Group

External positions

Honorary Lecturer, University of Leicester

18 Jan 2019 → …

Education / academic qualifications

  • 2008 - Doctor of Philosophy, Genetics, University of Leicester (2003 - 2007)
  • 2002 - Bachelor of Science, Molecular Biology, The University of Manchester (1999 - 2002)

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