PEDIA: prioritization of exome data by image analysis.

Autor:	Hsieh TC; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany., Mensah MA; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany., Pantel JT; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany., Aguilar D; Centro de Cáncer de Mama, Tecnológico de Monterrey, Monterrey, Mexico., Bar O; FDNA Inc., Boston, MA, USA., Bayat A; Rigshospitalet, Department of Neurology, Copenhagen, Denmark., Becerra-Solano L; Unidad de Investigación Médica en Medicina Reproductiva, Mexico City, Mexico., Bentzen HB; Centre for Medical Ethics, Faculty of Medicine and the Norwegian Research Center for Computers and Law, Faculty of Law, University of Oslo, Oslo, Norway., Biskup S; CeGaT GmbH, Tübingen, Germany., Borisov O; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Braaten O; Faculty of Medicine, Department of Medical Genetics, University of Oslo, Blindern, Oslo, Norway., Ciaccio C; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Coutelier M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Cremer K; Department of Human Genetics, University Hospital of Bonn, Bonn, Germany., Danyel M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Daschkey S; Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Eden HD; FDNA Inc., Boston, MA, USA., Devriendt K; Department of Human Genetics, KU Leuven, Leuven, Belgium., Wilson S; Department of Human Genetics, University of Hamburg, Hamburg, Germany., Douzgou S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.; School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom., Đukić D; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Ehmke N; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Fauth C; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Fischer-Zirnsak B; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Fleischer N; FDNA Inc., Boston, MA, USA., Gabriel H; Center for Genomics and Transcriptomics, Eberhard Karls University of Tübingen, Tübingen, Germany., Graul-Neumann L; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Gripp KW; A. I. duPont Hospital for Children, Wilmington, DE, USA., Gurovich Y; FDNA Inc., Boston, MA, USA., Gusina A; National Research and Applied Medicine Centre 'Mother and Child'', Minsk, Belarus., Haddad N; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Hajjir N; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Hanani Y; FDNA Inc., Boston, MA, USA., Hertzberg J; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Hoertnagel K; CeGaT GmbH, Tübingen, Germany., Howell J; Lineagen, Salt Lake City, Utah, USA., Ivanovski I; Clinical Genetics Unit, AUSL-IRCCS Reggio Emilia, Reggio Emilia, Italy., Kaindl A; Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin, Berlin, Germany., Kamphans T; GeneTalk, Bonn, Germany., Kamphausen S; University Hospital Magdeburg, Magdeburg, Germany., Karimov C; Children's Hospital of Los Angeles, Los Angeles, CA, USA., Kathom H; Department of Pediatrics, Medical University of Sofia, Sofia, Bulgaria., Keryan A; Children's Hospital of Los Angeles, Los Angeles, CA, USA., Knaus A; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Köhler S; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, NeuroCure Clinical Research Center, Berlin, Germany., Kornak U; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Lavrov A; Research Institute of Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation., Leitheiser M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Lyon GJ; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Woodbury, New York, USA., Mangold E; Institute of Human Genetics, University of Bonn, Bonn, Germany., Reina PM; Hospital General Universitario De Valencia, Valencia, Spain., Carrascal AM; Hospital General De Requena, Servicio Pediatría, Spain., Mitter D; University Hospital Leipzig, Leipzig, Germany., Herrador LM; Hospital Universitario Miguel Servet, Zaragoza, Spain., Nadav G; FDNA Inc., Boston, MA, USA., Nöthen M; Department of Human Genetics, University Hospital of Bonn, Bonn, Germany., Orrico A; Azienda Ospedaliera Universitaria Senese, Siena, Italy., Ott CE; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Park K; Department of Pediatrics and Neurology, University of Colorado School of Medicine, Colorado, Aurora, USA., Peterlin B; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia., Pölsler L; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Raas-Rothschild A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel., Randolph L; Children's Hospital of Los Angeles, Los Angeles, CA, USA., Revencu N; Center for Human Genetics, University Hospital, Université Catholique de Louvain, Brussels, Belgium., Fagerberg CR; Odense University Hospital, Odense, Denmark., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Rosnev S; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Rudnik S; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Rudolf G; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia., Schatz U; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Schossig A; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Schubach M; Berlin Institute of Health (BIH), Berlin, Germany., Shanoon O; FDNA Inc., Boston, MA, USA., Sheridan E; School of Medicine, University of Leeds, Leeds, United Kingdom., Smirin-Yosef P; Genomic Bioinformatics Laboratory, Department of Molecular Biology, Ariel University, Ariel, Israel., Spielmann M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Suk EK; Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany., Sznajer Y; Cliniques universitaires Saint Luc UCL, Bruxelles, Belgium., Thiel CT; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, Erlangen, Erlangen, Germany., Thiel G; Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany., Verloes A; Hopital Robert Debré, Paris, France., Vrecar I; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia., Wahl D; Center for Human Genetics and Laboratory Diagnostics Dr. Klein, Dr. Rost and Colleagues, Martinsried, Germany., Weber I; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Winter K; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Wiśniewska M; Poznañ University of Medical Sciences, Poznañ, Poland., Wollnik B; University Medical Center Göttingen, Göttingen, Germany., Yeung MW; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Zhao M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Zhu N; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Zschocke J; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Mundlos S; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Horn D; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany., Krawitz PM; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany. pkrawitz@uni-bonn.de.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Dec; Vol. 21 (12), pp. 2807-2814. Date of Electronic Publication: 2019 Jun 05.
DOI:	10.1038/s41436-019-0566-2
Abstrakt:	Purpose: Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. Methods: Here, we introduce an approach driven by artificial intelligence that uses portrait photographs for the interpretation of clinical exome data. We measured the value added by computer-assisted image analysis to the diagnostic yield on a cohort consisting of 679 individuals with 105 different monogenic disorders. For each case in the cohort we compiled frontal photos, clinical features, and the disease-causing variants, and simulated multiple exomes of different ethnic backgrounds. Results: The additional use of similarity scores from computer-assisted analysis of frontal photos improved the top 1 accuracy rate by more than 20-89% and the top 10 accuracy rate by more than 5-99% for the disease-causing gene. Conclusion: Image analysis by deep-learning algorithms can be used to quantify the phenotypic similarity (PP4 criterion of the American College of Medical Genetics and Genomics guidelines) and to advance the performance of bioinformatics pipelines for exome analysis.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu Full text from SpringerLink