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Authors: V. G. Kumov 1 ; A. V. Samorodov 1 ; I. V. Kanivets 2 ; K. V. Gorgisheli 2 and V. S. Solonichenko 3

Affiliations: 1 Department of Biomedical Engineering, Bauman Moscow State Technical University, 105005, Moscow, Russia ; 2 Genomed ltd, 115093, Moscow, Russia ; 3 Filatov Moscow Pediatric Clinical Hospital, 123001, Moscow, Russia

Keyword(s): Hereditary Diseases, Face Image, Facial Landmarks, Phenotypic Features.

Abstract: The paper proposes and investigates the phenotypic facial features recognition method based on facial points coordinates on a reconstructed 3D facial image. The accuracy of the determination of phenotypic features was investigated. The method recognizes phenotypic features with an accuracy of 84 % to 100 %. The method has been tested on open and own databases of facial images of patients with hereditary diseases. A criterion for the forming a risk group for Williams syndrome was proposed based on the summation of the absolute values of z-scores of phenotypic features. On own database, the criterion provides an AUC value of 0.922 for the separation of the Williams syndrome and the norm.

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Paper citation in several formats:
Kumov, V.; Samorodov, A.; Kanivets, I.; Gorgisheli, K. and Solonichenko, V. (2022). Research of the Method for Assessing Facial Phenotypic Features from 2D Images in Medical Genetics. In Proceedings of the 15th International Joint Conference on Biomedical Engineering Systems and Technologies - RMHM; ISBN 978-989-758-552-4; ISSN 2184-4305, SciTePress, pages 299-305. DOI: 10.5220/0010974700003123

@conference{rmhm22,
author={V. G. Kumov. and A. V. Samorodov. and I. V. Kanivets. and K. V. Gorgisheli. and V. S. Solonichenko.},
title={Research of the Method for Assessing Facial Phenotypic Features from 2D Images in Medical Genetics},
booktitle={Proceedings of the 15th International Joint Conference on Biomedical Engineering Systems and Technologies - RMHM},
year={2022},
pages={299-305},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0010974700003123},
isbn={978-989-758-552-4},
issn={2184-4305},
}

TY - CONF

JO - Proceedings of the 15th International Joint Conference on Biomedical Engineering Systems and Technologies - RMHM
TI - Research of the Method for Assessing Facial Phenotypic Features from 2D Images in Medical Genetics
SN - 978-989-758-552-4
IS - 2184-4305
AU - Kumov, V.
AU - Samorodov, A.
AU - Kanivets, I.
AU - Gorgisheli, K.
AU - Solonichenko, V.
PY - 2022
SP - 299
EP - 305
DO - 10.5220/0010974700003123
PB - SciTePress

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