Annie W. Chu - Publications

AI-CURA, an automated LLM workflow for high-accuracy genetic variant classification.

Journal: Science translational medicine

Published: June 24, 2026

Whole genome sequencing for CKD of unexplained cause in Hong Kong.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: June 22, 2026

Systematic evaluation of long-read and short-read sequencing in neurological disorders diagnosis: a direct comparison study of 310 patients.

Journal: NPJ genomic medicine

Published: February 02, 2026

Determinants of willingness-to-pay for genomic sequencing in hong kong: psycho-socio-economic factors and healthcare engagement from a contingent valuation study.

Journal: Scientific reports

Published: December 09, 2025

Bridging the Functional Gap by Synergy of Exome/Genome and RNA Sequencing: A Systematic Semi-quantitative Review Demonstrating Enhanced Diagnostic Yield in Genetic Diagnostics.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 05, 2025

Mapping glioblastoma's isoform diversity using long-read single-cell analysis.

Journal: Nature communications

Published: October 13, 2025

The clinical utility of genome sequencing is multi-dimensional: experience from the Hong Kong Genome Project.

Journal: Communications medicine

Published: March 07, 2025

Integrated genomic and transcriptomic profiling of glioblastoma reveals ecDNA-driven heterogeneity and microenvironmental reprogramming.

Journal: Cell reports

Published: February 28, 2025

Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project.

Journal: Human genetics

Published: September 19, 2024

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.

Journal: The Lancet regional health. Western Pacific

Published: August 14, 2024

A roadmap for genome projects to foster psychosocial and economic evidence to further policy and practice.

Journal: Communications medicine

Published: June 04, 2024

Revealing the role of SPP1+ macrophages in glioma prognosis and therapeutic targeting by investigating tumor-associated macrophage landscape in grade 2 and 3 gliomas.

Journal: Cell & bioscience

Published: October 27, 2023