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Trosolwyg
Cydymaith ymchwil wedi'i leoli mewn geneteg feddygol. Canolbwyntio'n drwm ar weithredu AI yn y gweithle.
Diddordebau ymchwil mewn AI Cynhyrchiol, Geneteg, Gwyddor Data a Biowybodeg.
Cyhoeddiad
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)
Erthyglau
- 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)