Author

Annie Tsz-Wai Chu

University of Hong KongORCID 0009-0004-8147-2890Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:large language model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Brian Hon Yin ChungiD· 1 shared Grace Fong· 1 shared Hui WuiD· 1 shared Jianlin LaiiD· 1 shared Jonson Ying· 1 shared Shirley Pik Ying HueiD· 1 shared The Hong Kong Genome Project· 1 shared Wei Ma· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Brian Hon Yin ChungORCID

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1 paper

Recent·Most cited

DeepSeek as the paradigm shift in rare disease diagnosis-the power of a fully automated genetic variant classification system

Wei Ma, Grace Fong, Jianlin Lai, Hui Wu, Shirley Pik Ying Hue, Jonson Ying, The Hong Kong Genome Project, Annie Tsz-Wai Chu, Brian Hon Yin Chung

This study develops a fully automated genetic variant classification framework using LLMs, achieving high sensitivity and 100% specificity in interpreting ACMG rules and matching human curators on curated variants.

medRxiv · Jun 3, 2025 · PreprintGenetic & Genomic Medicine