Article
Integrating deep phenotyping with genetic analysis: a comprehensive workflow for diagnosis and management of rare bone diseases.
Orphanet journal of rare diseases - 8 Oct 2024
Li Guozhuang, Xu Kexin, Yin Xiangjie, Yang Jianle, Cai Jihao, Yang Xinyu, Li Qing, Wang Jie, Zhao Zhengye, Mahesahti Aoran, Zhang Ning, Zhang Terry Jianguo, Wu Nan
Abstract excerpt
Phenotypes play a fundamental role in medical genetics, serving as external manifestations of underlying genotypes. Deep phenotyping, a cornerstone of precision medicine, involves precise multi-system phenotype assessments, facilitating disease subtyping and genetic understanding. Despite their significance, the field lacks standardized protocols for accurate phenotype evaluation, hindering clinical comprehension...
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