An explainable dataset linking facial phenotypes and genes to rare genetic diseases

Abstract Distinctive facial phenotypes serve as crucial diagnostic markers for many rare genetic diseases. Although AI-driven image recognition achieves high diagnostic accuracy, it often fails to explain its predictions. In this study, we present the Facial phenotype-Gene-Disease Dataset (FGDD), an...

Full description

Saved in:
Bibliographic Details
Main Authors: Jie Song, Mengqiao He, Shumin Ren, Bairong Shen
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Scientific Data
Online Access:https://doi.org/10.1038/s41597-025-04922-z
Tags: Add Tag
No Tags, Be the first to tag this record!