45 research outputs found
PEDIA: prioritization of exome data by image analysis.
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
Proceedings of the 29th EG-ICE International Workshop on Intelligent Computing in Engineering
This publication is the Proceedings of the 29th EG-ICE International Workshop on Intelligent Computing in Engineering from July 6-8, 2022. The EG-ICE International Workshop on Intelligent Computing in Engineering brings together international experts working on the interface between advanced computing and modern engineering challenges. Many engineering tasks require open-world resolution of challenges such as supporting multi-actor collaboration, coping with approximate models, providing effective engineer-computer interaction, search in multi-dimensional solution spaces, accommodating uncertainty, including specialist domain knowledge, performing sensor-data interpretation and dealing with incomplete knowledge. While results from computer science provide much initial support for resolution, adaptation is unavoidable and most importantly, feedback from addressing engineering challenges drives fundamental computer-science research. Competence and knowledge transfer goes both ways.
 
Proceedings of the 29th EG-ICE International Workshop on Intelligent Computing in Engineering
This publication is the Proceedings of the 29th EG-ICE International Workshop on Intelligent Computing in Engineering from July 6-8, 2022. The EG-ICE International Workshop on Intelligent Computing in Engineering brings together international experts working on the interface between advanced computing and modern engineering challenges. Many engineering tasks require open-world resolution of challenges such as supporting multi-actor collaboration, coping with approximate models, providing effective engineer-computer interaction, search in multi-dimensional solution spaces, accommodating uncertainty, including specialist domain knowledge, performing sensor-data interpretation and dealing with incomplete knowledge. While results from computer science provide much initial support for resolution, adaptation is unavoidable and most importantly, feedback from addressing engineering challenges drives fundamental computer-science research. Competence and knowledge transfer goes both ways.
 
Kurtze Einleitung in die Römischen Antiquitäten : So fern dieselben Sonderlich zu Lesung der so genannten Auctorum Classicorum zu wissen nöthig sind
Der studierenden Jugend zum Besten zusammen getragen von M. Johann Jacob Schatzen, Rect. Gymn. Trarbac.Vorlageform des Erscheinungsvermerks: Büdingen, Druckts und verlegts Joh. Friederich Regelein, Anno 1730
Als der Durchlauchtigste Fürst und Herr, Herr Wilhelm Henrich Hertzog zu Sachsen, Jülich, Cleve und Bergen, auch Engern und Westphalen, Graf zu Sayn und Witgenstein [et]c. [et]c. Dero Hoch-Fürstliches Geburts-Fest am 21 Nov. MDCCXXXIII in allem Hohen Wohlseyn glücklich erlebten, und selbiges den 26 Novembris feyerlichst begingen, Haben einige Discipuli der beyden obern Classen im Namen des gantzen Gymnasii in einem ... den 1 Decembris 1733 besonders angestellten Actu Oratorio ihre ... Devotion bezeugen, Und zu demselben ... einladen sollen M. Johann Jacob Schatz, des Gymnasii Director und Bibliothecarius
Behandelt die Beinamen sächsischer FürstenVorlageform des Erscheinungsvermerks: Eisenach, gedruckt bey Johann Christoph Krugen, Hoch-Fürstl. Sächß. Hof-Buchdrucker. XXVII
Kern der Geographie, Das ist Kurze und deutliche Beschreibung unserer Erd-Kugel nach derselben vier bekannten Theilen, und den darinn befindlichen besonderern Reichen und vornehmsten Staaten : Zum Behuf der Jugend beyderley Geschlechts, und zwar Nicht nur den ersten Anfängern in dieser Wissenschaft zu einer hinlänglichen Erkäntniß, sondern auch andern zu einer beständigen Wiederholung aufgesetzt
Von M. Johann Jacob Schatzen, des Straßburgischen Gymnasii Gymnasiarcha, und der dasigen Universität BibliothecarioAutopsie nach Ex. der ULB DüsseldorfVorlageform der Veröffentlichungsangabe: Straßburg, Verlegts Conrad Schmidt. 1760.In Fraktu