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职业迁徙
个人简介
Research and development activities are focused on human genome variation and disease with a core interest in knowledge management to bridge research and healthcare via data science tools and methods. Recent outputs include: the GA4GH/IRDiRC standard ‘ADA-M’ and ‘Beacon’; the GWAS Central database; and the ‘Café Variome’ discovery platform. Previously breakthroughs include unveiling the ‘TUF’ phenomenon (non-denaturing genomic DNA sequences); discovery of several disease genes (e.g. PSEN1 in Alzheimer’s Disease); inventing the ‘DASH’ method for reading DNA sequences by dynamic hybridisation; and the ‘Megaplex-PCR’ and hybridisation-enrichment technologies.
Previously launched two bioscience SMEs and currently funded via a range of EU IMI and national consortia projects.
研究兴趣
论文共 139 篇作者统计合作学者相似作者
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EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 62-63
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The Lancet Public Healthno. 7 (2023): e535-e545
Angela Bradshaw,Nigel Hughes,David Vallez-Garcia, Davit Chokoshvili,Andrew Owens,Clint Hansen,Kirsten Emmert,Walter Maetzler,Lewis Killin, Rodrigo Barnes,Anthony J Brookes,Pieter Jelle Visser,
Frontiers in neurology (2023): 1187095
Jordi Rambla, Michael Baudis,Roberto Ariosa, Tim Beck,Lauren A Fromont, Arcadi Navarro,Rahel Paloots,Manuel Rueda, Gary Saunders,Babita Singh, John D Spalding,Juha Törnroos,
Cell genomicsno. 2 (2021): None-None
Heidi L. Rehm,Angela Page,Lindsay Smith,Jeremy Adams,Gil Alterovitz, Larry Babb, Maxmillian P. Barkley,Michael Baudis,Michael J.S. Beauvais,Tim Beck,Jacques S. Beckmann,Sergi Beltrán,
Cell genomicsno. 2 (2021): 100029-100029
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