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Large expert-curated database for benchmarking document similarity detection in...

Brown, Peter; Tan, Aik-Choon; El-Esawi, Mohamed A.; Liehr, Thomas; Blanck, Oliver; Gladue, Douglas P.; Almeida, Gabriel M. F.; Cernava, Tomislav

Made available in DSpace on 2020-12-11T01:57:28Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-10-29; Griffith University Gowonda HPC Cluster; Queensland Cyber Infrastructure Foundation; Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents tha...

Date: 2020   |   Origin: Oasisbr

EMQN best practice guidelines for genetic testing in dystrophinopathies

Fratter, Carl; Dalgleish, Raymond; Allen, Stephanie K.; Santos, Rosário; Abbs, Stephen; Tuffery-Giraud, Sylvie; Ferlini, Alessandra

Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of new genetic technologies and the availability of new personalised drugs have influenced diagnostic genetic testing for dystrophinopathies. Therefore, these European best practice guidelines for genetic testing in dystrophinopathies have been...


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