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AI-CURA, an automated LLM workflow for high-accuracy genetic variant classification
Editor’s summary Abstract Supplementary Materials REFERENCES AND NOTES Information & Authors Metrics & Citations Check Access References Figures Tables Media Share Editor’s summary Genetic sequencing is essential for the medical care of many patients, but the need for extensive literature analysis and human data interpretation remain bottlenecks to its more widespread use. Ma et al.
Population-scale genomic medicine with the Hong Kong Genome Project
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Abstract The Hong Kong Genome Project (HKGP) aims to build a foundational resource for precision medicine in the Chinese population through large-scale genome sequencing and integrated analyses. Here we report findings from over 20,000 HKGP participants across two cohorts: a rare disease cohort including 2,227 patients with suspected genetic diseases and a population cohort including 18,261 participants undergoing genomic screening for medically actionable findings.
By Dingge Ying, Ching-Lung Cheung, Chun-Kwan O, Chak Sing Lau, Ho Ming Luk, Christopher Brandon Preusch, Wei Ma, Wenshu Tang, Juliana Chan, Yap-Hang Chan, Shuk Ching Chong, Cheuk Fung, Stephanie Ho, Suhas Krishnamoorthy, Gabriel Matthew Leung, QING LI, Herbert Loong, Shan Luo, Becky Mingyao Ma, Rong Na, Sheila Suet-Na Wong, Su-Vui Lo
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Nature
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