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Article

Addressing the diagnostic gap through deep phenotyping.

Human genomics - 19 Feb 2026

Li John Guozhuang, Xu Kexin, Xiao Bin, Li Jingnan, Zhu Yi-Cheng, Jin Hongzhong, Qi Qingwei, Wang Lianlei, Zhao Lina, Wu Zhihong, Zhao Sen, Zhang Terry Jianguo, Wu Nan

Abstract excerpt

BACKGROUND: Rare diseases remain a substantial challenge for healthcare systems worldwide, and 80% are attributable to genetic factors. Although exome sequencing (ES) and genome sequencing (GS) have become routine and widely accessible in our current clinical practice due to reduced costs and policy support, progress in systematically capturing deep and structured phenotypic data has lagged behind, limiting...

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PMID: 41715217
DOI: 10.1186/s40246-026-00925-y
PMCID: PMC13019781

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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