Author

Shirley Pik Ying Hue

ORCID 0000-0003-0283-8766Unclaimed 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

Annie Tsz-Wai ChuiD· 1 shared Brian Hon Yin ChungiD· 1 shared Grace Fong· 1 shared Hui WuiD· 1 shared Jianlin LaiiD· 1 shared Jonson Ying· 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

Annie Tsz-Wai ChuORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 3, 2025

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…·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.

DOI 10.1101/2025.06.03.25328923

humanwhole-exome sequencing

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