2025/07/15 by T. Li, Tung Chao Li, Lien‐Chung Wei · 1 citation
Biochemistry, Genetics and Molecular Biology · Neuroscience · Psychology · #Artificial intelligence #Autism Spectrum Disorder Research #Computer science #Data science #Face (sociological concept) #Genomic variations and chromosomal abnormalities #Psychology #Social science #Sociology
paper · doi:10.1111/ahg.70010
published in Annals of Human Genetics 90(1), 23-24 (Wiley)
openalex publication_date 2025/07/15 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28
The recent study by Makay et al. significantly advances our understanding of artificial intelligence (AI)-based tools for evaluating facial dysmorphism, particularly within underrepresented populations such as Central African children. This commentary underscores the importance of integrating AI phenotyping technologies with traditional clinical assessments, emphasizing their complementary roles rather than replacement. The commentary further explores methodological enhancements, including the integration of three-dimensional facial analysis, and highlights the necessity for ongoing validation studies in diverse ethnic cohorts to optimize algorithmic precision and clinical applicability. These refinements are essential for improving dysmorphology evaluations globally, particularly in regions with limited genetic healthcare resources.