GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.

Saved in:
Bibliographic Details
Title: GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Authors: Rekerle L; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA., Danis D; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany., Rehburg F; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany., Graefe AS; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany., Bily V; Centre of Cardiovascular Surgery and Transplantation Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic., Caballero-Oteyza A; Clinic for Immunology and Rheumatology, Hanover Medical School, Hanover, Germany.; Center for Chronic Immunodeficiency, University Hospital Freiburg, Satellite center of RESiST-Cluster of Excellence 2155, Hanover Medical School, Hanover, Germany., Cacheiro P; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Chimirri L; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany., Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA., Connelly E; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA., de Vries BB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Dingemans AJ; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Duyzend MH; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Freiberger T; Centre of Cardiovascular Surgery and Transplantation Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic., Gehle P; Deutsches Herzzentrum der Charité, Berlin, Germany., Groza T; Bioinformatics Institute, Agency for Science, Technology and Research (A*STAR), 30 Biopolis Street #07-01 Matrix, Singapore 138671, Singapore.; 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., Hansen P; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany., Jacobsen JOB; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Klocperk A; Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic., Ladewig MS; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany., Love MI; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.; Department of Biostatistics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA., Marcello AJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA., Mordhorst A; Institute of Medical and Human Genetics, Charité Universitätsmedizin Berlin, Germany., Munoz-Torres MC; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045., Reese J; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley CA 94720, USA., Schütz C; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Smedley D; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK., Strauss T; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Vladyka O; Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic., Zocche D; North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK., Thun S; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley CA 94720, USA., Haendel MA; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany.; Centre of Cardiovascular Surgery and Transplantation Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Clinic for Immunology and Rheumatology, Hanover Medical School, Hanover, Germany.; Center for Chronic Immunodeficiency, University Hospital Freiburg, Satellite center of RESiST-Cluster of Excellence 2155, Hanover Medical School, Hanover, Germany.; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA.; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Deutsches Herzzentrum der Charité, Berlin, Germany.; Bioinformatics Institute, Agency for Science, Technology and Research (A*STAR), 30 Biopolis Street #07-01 Matrix, Singapore 138671, Singapore.; 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.; Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic.; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany.; Department of Biostatistics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.; Institute of Medical and Human Genetics, Charité Universitätsmedizin Berlin, Germany.; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045.; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley CA 94720, USA.; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK.; ELLIS - the European Laboratory for Learning and Intelligent Systems., Robinson PN; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Germany.; ELLIS - the European Laboratory for Learning and Intelligent Systems.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Mar 06. Date of Electronic Publication: 2025 Mar 06.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
DOI:10.1101/2025.03.05.25323315