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.

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.

Autor: Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Brotman-Baty Institute, Seattle, WA 98195, USA., Childers MC; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA.; University of Washington Center for Translational Muscle Research, Seattle, WA 98195, USA., Marvin CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Marcello AJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Gonorazky H; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Hazrati LN; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Dowling JJ; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Departments of Paediatrics and Molecular Genetics, University of Toronto, Toronto, ON M5G 0A4, Canada., Al Amrani F; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Division of Neurology, Department of Pediatrics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Sultanate of Oman., Alanay Y; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, Turkey., Nieto Y; Department of Basic Bio-Medical Sciences, European University of Madrid, Madrid, Spain., Gabriel MÁM; Department of Pediatrics, Puerta de Hierro-Majadahonda University Hospital, 28221 Madrid, Spain., Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Buckingham KJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Shively KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Sommers O; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Anderson K; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Regnier M; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA.; University of Washington Center for Translational Muscle Research, Seattle, WA 98195, USA., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Brotman-Baty Institute, Seattle, WA 98195, USA.; University of Washington Center for Translational Muscle Research, Seattle, WA 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Seattle Children's Hospital, Seattle, WA 98105, USA.

Publikováno v: HGG advances [HGG Adv] 2023 Jun 15; Vol. 4 (3), pp. 100213. Date of Electronic Publication: 2023 Jun 15 (Print Publication: 2023).