Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis.
Genes (Basel)
; 15(3)2024 03 17.
Article
em En
| MEDLINE
| ID: mdl-38540429
ABSTRACT
Genomic variant prioritization is crucial for identifying disease-associated genetic variations. Integrating facial and clinical feature analyses into this process enhances performance. This study demonstrates the integration of facial analysis (GestaltMatcher) and Human Phenotype Ontology analysis (CADA) within VarFish, an open-source variant analysis framework. Challenges related to non-open-source components were addressed by providing an open-source version of GestaltMatcher, facilitating on-premise facial analysis to address data privacy concerns. Performance evaluation on 163 patients recruited from a German multi-center study of rare diseases showed PEDIA's superior accuracy in variant prioritization compared to individual scores. This study highlights the importance of further benchmarking and future integration of advanced facial analysis approaches aligned with ACMG guidelines to enhance variant classification.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Raras
Limite:
Humans
Idioma:
En
Revista:
Genes (Basel)
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Alemanha