![Matthew Hayden MSc, BSc (Hons)](https://profiles-cardiff.imgix.net/attachments/5794?w=200&h=200&auto=format&crop=faces&fit=crop&q=90")
Overview
Researcher in medical genetics with a focus on bioinformatics, data science, AI and innovation.
An AI champion for the school of medicine.
Interested in engagement and research within the fields of Bioinformatics, Genetics and the implimentation of AI.
Publication
2021
- Neville, M. D. et al. 2021. A platform for curated products from novel Open Reading Frames (nORFs) prompts reinterpretation of disease variants. Genome Research 31(2), pp. 327-336. (10.1101/gr.263202.120)
2020
- Stenson, P. D. et al. 2020. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Human Genetics 139, pp. 1197-1207. (10.1007/s00439-020-02199-3)
- Chen, J., Lin, J., Masson, E., Liao, Z., Férec, C., Cooper, D. N. and Hayden, M. 2020. The experimentally obtained functional impact assessments of 5' splice site GT>GC variants differ markedly from those predicted. Current Genomics 21(1), pp. 56-66. (10.2174/1389202921666200210141701)
2019
- Lin, J. et al. 2019. First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts. Human Mutation 40(10), pp. 1856-1873. (10.1002/humu.23821)
2017
- Stenson, P. D. et al. 2017. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human Genetics 136(6), pp. 665-677. (10.1007/s00439-017-1779-6)
Articles
- Neville, M. D. et al. 2021. A platform for curated products from novel Open Reading Frames (nORFs) prompts reinterpretation of disease variants. Genome Research 31(2), pp. 327-336. (10.1101/gr.263202.120)
- Stenson, P. D. et al. 2020. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Human Genetics 139, pp. 1197-1207. (10.1007/s00439-020-02199-3)
- Chen, J., Lin, J., Masson, E., Liao, Z., Férec, C., Cooper, D. N. and Hayden, M. 2020. The experimentally obtained functional impact assessments of 5' splice site GT>GC variants differ markedly from those predicted. Current Genomics 21(1), pp. 56-66. (10.2174/1389202921666200210141701)
- Lin, J. et al. 2019. First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts. Human Mutation 40(10), pp. 1856-1873. (10.1002/humu.23821)
- Stenson, P. D. et al. 2017. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human Genetics 136(6), pp. 665-677. (10.1007/s00439-017-1779-6)