ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
PEDIA: prioritization of exome data by image analysis.
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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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37citing papers in PubMed
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37 citing papers in PubMed.
- Leveraging Next-Generation Phenotyping in Dysmorphology to Support Variant Interpretation in Mowat-Wilson Syndrome.Neurology. Genetics · 2026Article
- AI-Driven Multidimensional Phenotyping for Variant Classification in Rare Neurogenetic Disorders.Neurology. Genetics · 2026Article
- Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics.American journal of medical genetics. Part A · 2025Review
- Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2Gene.European journal of human genetics : EJHG · 2025Article
- Review
- Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases.NPJ digital medicine · 2025Article
- Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.EBioMedicine · 2025Article
- Artificial intelligence in clinical genetics.European journal of human genetics : EJHG · 2025Review
- GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disorders.European journal of human genetics : EJHG · 2025Article
- A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder.IEEE access : practical innovations, open solutions · 2025Article
- Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.Molecular genetics & genomic medicine · 2024Article
- Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Nature genetics · 2024Article
- Article
- Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis.Genes · 2024Article
- Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study.Journal of medical Internet research · 2024Article
- Molecular mechanisms of human overgrowth and use ofFrontiers in genetics · 2024Review
- [Next-generation phenotyping in rare diseases with facial dysmorphism].Innere Medizin (Heidelberg, Germany) · 2023Review
- PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.Nature genetics · 2023Article
- The future role of facial image analysis in ACMG classification guidelines.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Carney complex- why thorough medical history taking is so important - report of three cases and review of the literature.Endocrine · 2023Review
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Authors and funding
94 authors.
Tzung-Chien HsiehInstitute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
Martin A MensahCharité - 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.ORCID http://orcid.org/0000-0001-8080-8779
Jean T PantelInstitute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0002-2674-4660
Dione AguilarCentro de Cáncer de Mama, Tecnológico de Monterrey, Monterrey, Mexico.ORCID http://orcid.org/0000-0003-0491-1525
Omri BarFDNA Inc., Boston, MA, USA.ORCID http://orcid.org/0000-0001-6680-2178
Allan BayatRigshospitalet, Department of Neurology, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-3522-9767
Luis Becerra-SolanoUnidad de Investigación Médica en Medicina Reproductiva, Mexico City, Mexico.
Heidi B BentzenCentre for Medical Ethics, Faculty of Medicine and the Norwegian Research Center for Computers and Law, Faculty of Law, University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0001-8285-818X
Saskia BiskupCeGaT GmbH, Tübingen, Germany.
Oleg BorisovInstitute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0001-8700-4335
Oivind BraatenFaculty of Medicine, Department of Medical Genetics, University of Oslo, Blindern, Oslo, Norway.ORCID http://orcid.org/0000-0002-0851-4722
Claudia CiaccioDevelopmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Marie CoutelierCharité - 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.
Kirsten CremerDepartment of Human Genetics, University Hospital of Bonn, Bonn, Germany.
Magdalena DanyelCharité - 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.
Svenja DaschkeyMedical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Hilda David EdenFDNA Inc., Boston, MA, USA.
Koenraad DevriendtDepartment of Human Genetics, KU Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0002-3651-2548
Sandra WilsonDepartment of Human Genetics, University of Hamburg, Hamburg, Germany.
Sofia DouzgouManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Dejan ĐukićInstitute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0003-1574-1074
Nadja EhmkeCharité - 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.
Christine FauthDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Björn Fischer-ZirnsakCharité - 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.
Nicole FleischerFDNA Inc., Boston, MA, USA.
Heinz GabrielCenter for Genomics and Transcriptomics, Eberhard Karls University of Tübingen, Tübingen, Germany.
Luitgard Graul-NeumannCharité - 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.
Karen W GrippA. I. duPont Hospital for Children, Wilmington, DE, USA.
Yaron GurovichFDNA Inc., Boston, MA, USA.ORCID http://orcid.org/0000-0002-9474-3846
Asya GusinaNational Research and Applied Medicine Centre 'Mother and Child'', Minsk, Belarus.
Nechama HaddadCharité - 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.ORCID http://orcid.org/0000-0002-7840-0296
Nurulhuda HajjirCharité - 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.
Yair HananiFDNA Inc., Boston, MA, USA.
Jakob HertzbergCharité - 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.ORCID http://orcid.org/0000-0002-0581-7939
Konstanze HoertnagelCeGaT GmbH, Tübingen, Germany.
Janelle HowellLineagen, Salt Lake City, Utah, USA.
Ivan IvanovskiClinical Genetics Unit, AUSL-IRCCS Reggio Emilia, Reggio Emilia, Italy.ORCID http://orcid.org/0000-0002-0113-783X
Angela KaindlCenter for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin, Berlin, Germany.
Tom KamphansGeneTalk, Bonn, Germany.ORCID http://orcid.org/0000-0003-4848-7885
Susanne KamphausenUniversity Hospital Magdeburg, Magdeburg, Germany.
Catherine KarimovChildren's Hospital of Los Angeles, Los Angeles, CA, USA.
Hadil KathomDepartment of Pediatrics, Medical University of Sofia, Sofia, Bulgaria.
Anna KeryanChildren's Hospital of Los Angeles, Los Angeles, CA, USA.
Alexej KnausInstitute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0003-0366-0533
Sebastian KöhlerCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, NeuroCure Clinical Research Center, Berlin, Germany.
Uwe KornakCharité - 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.
Alexander LavrovResearch Institute of Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation.ORCID http://orcid.org/0000-0003-4962-6947
Maximilian LeitheiserCharité - 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.
Gholson J LyonStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Woodbury, New York, USA.ORCID http://orcid.org/0000-0002-5869-0716
Elisabeth MangoldInstitute of Human Genetics, University of Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0002-3819-2576
Purificación Marín ReinaHospital General Universitario De Valencia, Valencia, Spain.ORCID http://orcid.org/0000-0003-3780-2077
Antonio Martinez CarrascalHospital General De Requena, Servicio Pediatría, Spain.ORCID http://orcid.org/0000-0003-2618-1762
Diana MitterUniversity Hospital Leipzig, Leipzig, Germany.ORCID http://orcid.org/0000-0001-9535-9494
Laura Morlan HerradorHospital Universitario Miguel Servet, Zaragoza, Spain.
Guy NadavFDNA Inc., Boston, MA, USA.
Markus NöthenDepartment of Human Genetics, University Hospital of Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0002-8770-2464
Alfredo OrricoAzienda Ospedaliera Universitaria Senese, Siena, Italy.ORCID http://orcid.org/0000-0002-9490-0442
Claus-Eric OttCharité - 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.ORCID http://orcid.org/0000-0003-3627-3791
Kristen ParkDepartment of Pediatrics and Neurology, University of Colorado School of Medicine, Colorado, Aurora, USA.ORCID http://orcid.org/0000-0001-5527-3047
Borut PeterlinClinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.ORCID http://orcid.org/0000-0001-7824-4978
Laura PölslerDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Annick Raas-RothschildThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
Linda RandolphChildren's Hospital of Los Angeles, Los Angeles, CA, USA.
Nicole RevencuCenter for Human Genetics, University Hospital, Université Catholique de Louvain, Brussels, Belgium.ORCID http://orcid.org/0000-0002-7120-4903
Christina Ringmann FagerbergOdense University Hospital, Odense, Denmark.
Peter Nick RobinsonThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID http://orcid.org/0000-0002-0736-9199
Stanislav RosnevCharité - 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.ORCID http://orcid.org/0000-0003-0256-7038
Sabine RudnikDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Gorazd RudolfClinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.ORCID http://orcid.org/0000-0003-3863-3308
Ulrich SchatzDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Anna SchossigDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.ORCID http://orcid.org/0000-0003-2623-0480
Max SchubachBerlin Institute of Health (BIH), Berlin, Germany.ORCID http://orcid.org/0000-0002-2032-6679
Or ShanoonFDNA Inc., Boston, MA, USA.
Eamonn SheridanSchool of Medicine, University of Leeds, Leeds, United Kingdom.ORCID http://orcid.org/0000-0002-7237-6280
Pola Smirin-YosefGenomic Bioinformatics Laboratory, Department of Molecular Biology, Ariel University, Ariel, Israel.
Malte SpielmannCharité - 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.ORCID http://orcid.org/0000-0002-0583-4683
Eun-Kyung SukCenter for Prenatal Diagnosis and Human Genetics, Berlin, Germany.
Yves SznajerCliniques universitaires Saint Luc UCL, Bruxelles, Belgium.ORCID http://orcid.org/0000-0001-8161-4490
Christian T ThielInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, Erlangen, Erlangen, Germany.ORCID http://orcid.org/0000-0003-3817-7277
Gundula ThielCenter for Prenatal Diagnosis and Human Genetics, Berlin, Germany.
Alain VerloesHopital Robert Debré, Paris, France.
Irena VrecarClinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.ORCID http://orcid.org/0000-0001-7592-410X
Dagmar WahlCenter for Human Genetics and Laboratory Diagnostics Dr. Klein, Dr. Rost and Colleagues, Martinsried, Germany.
Ingrid WeberDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.ORCID http://orcid.org/0000-0002-5781-393X
Korina WinterCharité - 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.
Marzena WiśniewskaPoznañ University of Medical Sciences, Poznañ, Poland.
Bernd WollnikUniversity Medical Center Göttingen, Göttingen, Germany.ORCID http://orcid.org/0000-0003-2589-0364
Ming W YeungInstitute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0001-9794-3109
Max ZhaoCharité - 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.ORCID http://orcid.org/0000-0001-7259-1901
Na ZhuCharité - 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.
Johannes ZschockeDivision of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.ORCID http://orcid.org/0000-0002-0046-8274
Stefan MundlosCharité - 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.ORCID http://orcid.org/0000-0002-9788-3166
Denise HornCharité - 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.ORCID http://orcid.org/0000-0003-0870-8911
Peter M KrawitzInstitute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany. pkrawitz@uni-bonn.de.ORCID http://orcid.org/0000-0002-3194-8625
Funding
Amino-terminal acetylation of proteins in mammalian biology and diseaseR35GM133408 · NIGMS · INSTITUTE FOR BASIC RES IN DEV DISABIL · PI LYON, GHOLSON · 2019 to 2023
$2.4MNIGMS NIH HHS R35 GM133408
Abstract
purposePhenotype 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.
methodsHere, 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.
resultsThe 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.
conclusionImage 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.
Indexed as
AlgorithmsComputational BiologyDatabases, GeneticDeep LearningExomeFemaleGenomicsHumansImage Processing, Computer-AssistedMalePhenotypeSequence Analysis, DNASoftwarecomputer visiondeep learningdysmorphologyexome diagnosticsvariant prioritization
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