Your browser doesn't support javascript.
loading
GA4GH Phenopackets: A Practical Introduction.
Ladewig, Markus S; Jacobsen, Julius O B; Wagner, Alex H; Danis, Daniel; El Kassaby, Baha; Gargano, Michael; Groza, Tudor; Baudis, Michael; Steinhaus, Robin; Seelow, Dominik; Bechrakis, Nikolaos E; Mungall, Christopher J; Schofield, Paul N; Elemento, Olivier; Smith, Lindsay; McMurry, Julie A; Munoz-Torres, Monica; Haendel, Melissa A; Robinson, Peter N.
Afiliación
  • Ladewig MS; Department of Ophthalmology Klinikum Saarbrücken 66119 Saarbrücken Germany.
  • Jacobsen JOB; William Harvey Research Institute Charterhouse Square Barts and the London School of Medicine and Dentistry Queen Queen Mary University of London London EC1M 6BQ UK.
  • Wagner AH; Departments of Pediatrics and Biomedical Informatics The Ohio State University College of Medicine Columbus OH 43210 USA.
  • Danis D; The Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital Columbus OH 43215 USA.
  • El Kassaby B; The Jackson Laboratory for Genomic Medicine 10 Discovery Drive Farmington CT 06032 USA.
  • Gargano M; The Jackson Laboratory for Genomic Medicine 10 Discovery Drive Farmington CT 06032 USA.
  • Groza T; The Jackson Laboratory for Genomic Medicine 10 Discovery Drive Farmington CT 06032 USA.
  • Baudis M; European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge CB10 1SD UK.
  • Steinhaus R; Department of Molecular Life Sciences and Swiss Institute of Bioinformatics University of Zurich Zurich Switzerland.
  • Seelow D; Exploratory Diagnostic Sciences Berlin Institute of Health at Charité - Universitätsmedizin Berlin 10178 Berlin Germany.
  • Bechrakis NE; Institute of Medical Genetics and Human Genetics Charité - Universitätsmedizin Berlin Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin 13353 Berlin Germany.
  • Mungall CJ; Exploratory Diagnostic Sciences Berlin Institute of Health at Charité - Universitätsmedizin Berlin 10178 Berlin Germany.
  • Schofield PN; Institute of Medical Genetics and Human Genetics Charité - Universitätsmedizin Berlin Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin 13353 Berlin Germany.
  • Elemento O; Department of Ophthalmology University Clinic Essen 45147 Essen Germany.
  • Smith L; Lawrence Berkeley National Laboratory Environmental Genomics and Systems Biology Berkeley CA 94720 USA.
  • McMurry JA; Department of Physiology Development and Neuroscience University of Cambridge Downing Street Cambridge CB2 3EG UK.
  • Munoz-Torres M; The Jackson Laboratory Bar Harbor ME 04609 USA.
  • Haendel MA; Caryl and Israel Englander Institute for Precision Medicine Weill Cornell Medicine New York NY 10021 USA.
  • Robinson PN; Ontario Institute for Cancer Research Adaptive Oncology Toronto CA M5G0A3 USA.
Adv Genet (Hoboken) ; 4(1): 2200016, 2023 Mar.
Article en En | MEDLINE | ID: mdl-36910590
The Global Alliance for Genomics and Health (GA4GH) is developing a suite of coordinated standards for genomics for healthcare. The Phenopacket is a new GA4GH standard for sharing disease and phenotype information that characterizes an individual person, linking that individual to detailed phenotypic descriptions, genetic information, diagnoses, and treatments. A detailed example is presented that illustrates how to use the schema to represent the clinical course of a patient with retinoblastoma, including demographic information, the clinical diagnosis, phenotypic features and clinical measurements, an examination of the extirpated tumor, therapies, and the results of genomic analysis. The Phenopacket Schema, together with other GA4GH data and technical standards, will enable data exchange and provide a foundation for the computational analysis of disease and phenotype information to improve our ability to diagnose and conduct research on all types of disorders, including cancer and rare diseases.
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Guideline Idioma: En Revista: Adv Genet (Hoboken) Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Guideline Idioma: En Revista: Adv Genet (Hoboken) Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos