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Some of these have been implemented on online platforms with user\u2010friendly interfaces and provide facial analysis services, such as Face2Gene. However, users cannot run the facial analysis processes in house because the training data and the trained models are unavailable. This article therefore provides an introduction, designed for users with programming backgrounds, to the use of the open\u2010source GestaltMatcher approach to run facial analysis in their local environment. The Basic Protocol provides detailed instructions for applying for access to the trained models and then performing facial analysis to obtain a prediction score for each of the 595 genes in the GestaltMatcher Database. The prediction results can then be used to narrow down the search space of disease\u2010causing mutations or further connect with a variant\u2010prioritization pipeline. \u00a9 2023 The Authors. Current Protocols published by Wiley Periodicals LLC.<\/jats:p><jats:p><jats:bold>Basic Protocol<\/jats:bold>: Using the open\u2010source GestaltMatcher approach to perform facial analysis<\/jats:p>","DOI":"10.1002\/cpz1.906","type":"journal-article","created":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T18:41:30Z","timestamp":1696876890000},"source":"Crossref","is-referenced-by-count":9,"title":["Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores"],"prefix":"10.1002","volume":"3","author":[{"given":"Tzung\u2010Chien","family":"Hsieh","sequence":"first","affiliation":[{"name":"Institut f\u00fcr Genomische Statistik und Bioinformatik, Universit\u00e4tsklinikum Bonn Rheinische Friedrich\u2010Wilhelms\u2010Universit\u00e4t Bonn  Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hellen","family":"Lesmann","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Genomische Statistik und Bioinformatik, Universit\u00e4tsklinikum Bonn Rheinische Friedrich\u2010Wilhelms\u2010Universit\u00e4t Bonn  Bonn Germany"},{"name":"Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Bonn Universit\u00e4t Bonn  Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter M.","family":"Krawitz","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Genomische Statistik und Bioinformatik, Universit\u00e4tsklinikum Bonn Rheinische Friedrich\u2010Wilhelms\u2010Universit\u00e4t Bonn  Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,10,9]]},"reference":[{"key":"e_1_2_5_2_1_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010023\u201001307\u2010x"},{"key":"e_1_2_5_2_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.xhgg.2022.100111"},{"key":"e_1_2_5_2_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100836"},{"key":"e_1_2_5_2_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24467"},{"key":"e_1_2_5_2_5_1","doi-asserted-by":"crossref","unstructured":"Deng J. 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Improving deep facial phenotyping for ultra\u2010rare disorder verification using model ensembles.2023 IEEE\/CVF Winter Conference on Applications of Computer Vision (WACV) Waikoloa HI USA(pp.5007\u20135017).Institute of Electrical and Electronics Engineers.https:\/\/doi.org\/10.1109\/wacv56688.2023.00499","DOI":"10.1109\/WACV56688.2023.00499"},{"key":"e_1_2_5_2_15_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2022.1020609"},{"key":"e_1_2_5_2_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073\u2010017\u20100510\u20105"},{"key":"e_1_2_5_2_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkaa1043"},{"key":"e_1_2_5_2_18_1","doi-asserted-by":"crossref","unstructured":"Lesmann H. Lyon G. J. Caro P. Abdelrazek I. M. Moosa S. Pantel J. T. ten Hagen M. Rosnev S. Kamphans T. Meiswinkel W. Li J.\u2010M. Klinkhammer H. Hustinx A. Javanmardi B. Knaus A. Uwineza A. Knopp C. Marchi E. Elbracht M. \u2026Hsieh T.\u2010C.(2023).GestaltMatcher Database\u2014a FAIR database for medical imaging data of rare disorders [Preptint]. Retrieved frommedRxiv 23290887.https:\/\/doi.org\/10.1101\/2023.06.06.23290887","DOI":"10.1016\/j.gimo.2023.100225"},{"key":"e_1_2_5_2_19_1","doi-asserted-by":"crossref","unstructured":"Lyon G. J. Vedaie M. Besheim T. Park A. Marchi E. Gottlieb L. Hsieh T.\u2010C. Klinkhammer H. Sandomirsky K. Cheng H. Starr L. J. Preddy I. Tseng M. Li Q. Hu Y. Wang K. Carvalho A. Martinez F. Caro\u2010Llopis A. \u2026Herr\u2010Israel E.(2023).Expanding the phenotypic spectrum of NAA10\u2010related neurodevelopmental syndrome and NAA15\u2010related neurodevelopmental syndrome [Preprint]. 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