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POSB338 Identification of Meaningful Aspects of Physical Activity: Concept Elicitation By AI-Assisted Coding of Online Patient Conversations

Autor: Y Bridges, M Chowdhury, A Tahsin, C Bessant, M Abdollahyan, F Smeraldi, B Byrom

Publikováno v: Value in Health. 25:S226

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4f017856e586003bb32dea44988c7946
https://doi.org/10.1016/j.jval.2021.11.1105

The Development of the KSU PDS Model: 25 Years in the Making

Autor: Nancy Y. Bridges, Teresa Miller, Sally Yahnke, M. Gail Shroyer, Cindi Dunn

Publikováno v: Educational Considerations. 42

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d8ede331f5d5f86d6fb0570bfb24ffcf
https://doi.org/10.4148/0146-9282.1039

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.

Autor: Reese JT; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Monarch Initiative., Chimirri L; Monarch Initiative.; Berlin Institute of Health at Charite Universitaetsmedizin Berlin, Berlin, Germany., Bridges Y; Monarch Initiative.; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Danis D; Monarch Initiative.; Berlin Institute of Health at Charite Universitaetsmedizin Berlin, Berlin, Germany., Caufield JH; Monarch Initiative.; University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Wissink K; Berlin Institute of Health at Charite Universitaetsmedizin Berlin, Berlin, Germany., McMurry JA; Monarch Initiative.; University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Graefe AS; Berlin Institute of Health at Charite Universitaetsmedizin Berlin, Berlin, Germany., Casiraghi E; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; AnacletoLab, Dipartimento di Informatica, Università degli Studi di Milano, Milano, Italy.; ELLIS-European Laboratory for Learning and Intelligent Systems., Valentini G; AnacletoLab, Dipartimento di Informatica, Università degli Studi di Milano, Milano, Italy.; ELLIS-European Laboratory for Learning and Intelligent Systems., Jacobsen JO; Monarch Initiative.; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Haendel M; Monarch Initiative.; University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Smedley D; Monarch Initiative.; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Mungall CJ; Monarch Initiative.; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Robinson PN; Monarch Initiative.; Berlin Institute of Health at Charite Universitaetsmedizin Berlin, Berlin, Germany.; ELLIS-European Laboratory for Learning and Intelligent Systems.; The Jackson Institute for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Nov 07. Date of Electronic Publication: 2024 Nov 07.

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.

Autor: Danis D; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA., Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA; Brotman-Baty Institute for Precision Medicine, 1959 NE Pacific Street, Box 357657, Seattle, WA 98195, USA; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98195, USA., Bridges Y; William Harvey Research Institute, Queen Mary University of London, London, UK., Caballero-Oteyza A; Clinic for Immunology and Rheumatology, Hanover Medical School, Hanover, Germany; RESiST-Cluster of Excellence 2155, Hanover Medical School, Hanover, Germany., Cacheiro P; William Harvey Research Institute, Queen Mary University of London, London, UK., Carmody LC; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA., Chimirri L; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA; Brotman-Baty Institute for Precision Medicine, 1959 NE Pacific Street, Box 357657, Seattle, WA 98195, USA., Coleman B; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA., Dalgleish R; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK., Freeman PJ; Division of Informatics, Imaging and Data Science, The University of Manchester, Manchester, UK., Graefe ASL; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Groza T; Rare Care Centre, Perth Children's Hospital, Nedlands, WA 6009, Australia; SingHealth Duke-NUS Institute of Precision Medicine, 5 Hospital Drive Level 9, Singapore 169609, Singapore; Telethon Kids Institute, Nedlands, WA 6009, Australia., Hansen P; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK., Klocperk A; Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic., Kusters M; Department of Paediatric Immunology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; University College London Institute of Child Health, London, UK., Ladewig MS; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany., Marcello AJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA., Mattina T; Medica Genetics University of Catania Italy, Catania, Italy; Morgagni Foundation and Clinic, Catania, Italy., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Munoz-Torres MC; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Reese JT; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Rehburg F; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Reis BCS; Department of Allergy and Immunology, National Institute of Women's, Children's and Adolescents' Health Fernandes Figueira, Rio de Janeiro, Brazil; High Complexity Laboratory, National Institute of Women's, Children's and Adolescents' Health Fernandes Figueira, Rio de Janeiro, Brazil., Schuetz C; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; University Center for Rare Diseases, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; German Center for Child and Adolescent Health (DZKJ), partner site Leipzig/Dresden, Dresden, Germany., Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK., Strauss T; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; University Center for Rare Diseases, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Sundaramurthi JC; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA., Thun S; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Wissink K; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany; Utrecht University, Utrecht, the Netherlands., Wagstaff JF; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK., Zocche D; North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK., Haendel MA; University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Robinson PN; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA; ELLIS-European Laboratory for Learning and Intelligent Systems. Electronic address: peter.robinson@bih-charite.de.

Publikováno v: HGG advances [HGG Adv] 2024 Oct 10; Vol. 6 (1), pp. 100371. Date of Electronic Publication: 2024 Oct 10.