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 teaches in the Manchester Academy for Healthcare Science Education, teaching trainee NHS Scientists clinical genomics and genomics bioinformatics, also teaching on a wider Masters programme and online PGCert in genomics medicine. He also co-leads the unit Introduction to programming for clinical bioinformatics https://tinyurl.com/y45upaoe

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 2015, he switched career paths from laboratory work into the bioinformatics space. He developed genomic sequence variant nomenclature software called VariantValidator. VariantValidator is endorsed as a gold-standard sequence variant description tool by world leading biomedical journals including Human Mutation and Genetics in Medicine. VariantValidator is also being integrated into genomic analysis and diagnostic pipelines including packages created by the Global Alliance for Genomics and Health, UKs NHS and Leiden Open Variant Database (LOVD). VariantValidatoe is also used in Quality Assurance pipelines in the UK, USA and EU.

In March 2019 he moved to the University of Manchester to apply his experience genomic sequence variation analysis towards teaching and ongoing research in the clinical genomics bioinformatics space. He remains the lead-developer of VariantValidator.

In late 2018, he was made a full member of the HGVS Sequence Variant Nomenclature working group and was also awarded an honorary lectureship at the University of Leicester where he actively contributes to ongoing research.

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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