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Publications & Videos

Corporate Publication
Video
Distinguished Scholar Series
Leaflet
Booklet
Research

Genomic Medicine - Interview Series

【Hong Kong Genome Institute】 - Availing Genomic Medicine to All for Better Health (1-min version)
2022-10-27
【Hong Kong Genome Institute】 - Availing Genomic Medicine to All for Better Health (full version)
2022-10-27
【Genomic Medicine ‧ Expert Video Series】
2023-04-14
【Genomic Medicine ‧ How It All Started】Professor Raymond Liang - Deputy Chairperson of HKGI Board and Specialist in Haematology and Haematological Oncology
2023-03-02
【Genomic Medicine ‧ Building the Blocks】Professor Nancy Ip - World-renowned Neuroscientist
2022-08-23
【Genomic Medicine ‧ Availing It for the Greater Good】Professor Lau Chak-sing - HKGI Board Member and Expert in Rheumatology and Clinical Immunology
2023-03-02
【Genomic Medicine ‧ The Future is Here】Professor Dennis Lo - HKGI Board Member and Father of Non-invasive Prenatal Testing
2022-08-24

Seminars and Event Highlights

【Launch of Research Excellence Grants in Genomic Medicine to Nurture Talents】
2023-07-11

Hong Kong Genome Project Details - Animated Stories

Hong Kong Genome Project Details

Notes for Participants and Withdrawal from the Project
2021-11-11

The Unseen Stories

HKGI 2023-24 Annual Report
eBook version
PDF version
Our Year at a Glance
Our Life-changing Stories
2024-12-06
HKGI 2022-23 Annual Report
eBook version
PDF version
Our Year at a Glance
2023-11-30
HKGI 2021-22 Annual Report
eBook version
PDF version
Milestones of the Year
2022-12-19
HKGI Strategic Plan 2022-25
PDF version
Executive Summary
2022-07-11
【Mutational Signature Analysis in Cancer Whole-genome】
2025-05-16
【Accelerating Rare Disease Diagnosis: From Rapid Testing to Genomic Newborn Screening】
2025-02-28
【Moving Towards Genome-editing Therapies】
2024-12-17
【Advancing Genomic Medicine through Global Collaboration】
2024-09-24
Leaflet
2021-10-15
Booklet (for individuals aged 12-17)
2021-10-15
Booklet (for individuals aged 18 or above)
2021-10-15
DateTitle & AuthorJournalPublisher
Apr 2025Experiences of participants with undiagnosed diseases and hereditary cancers during the initial phase of the Hong Kong genome project: a mixed-methods studyAnnie T.W. Chu, Samuel Y.C. Sze, Desiree M.S. Tse, Cheryl W.Y. Lai, Carmen S. Ng, Coco W.S. Yu, Pui-Hong Chung, Fei-Chau Pang, Brian H.Y. Chung, Su-Vui Lo, Jianchao QuanHuman Genomics
Mar 2025Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome ProjectDingge Ying, Jamie Sui Lam Kwok, Annie Tsz Wai Chu, Wei Ma, Helen Ying Fung Tam, Dicky Or, Shirley Pik Ying Hue, Hong Kong Genome Project, Qing Li, Christopher Kai Shun Leung, Brian Hon Yin ChungHuman Genetics
Mar 2025A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong KongDesiree Man Sik Tse; Brian Hon Yin Chung; Hong Kong Genetic Counselling Practice Consortium; Hong Kong Genome Project; Annie Tsz Wai ChuJournal of Human Genetics
Feb 2025The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome projectWai Kei Jacky Lam, Chak Sing Lau, Ho Ming Luk, Lisa Wing Chi Au, Gary C.P. Chan, Will Yap Hang Chan, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Li Li Cheung, Yiu Fai Cheung, Josephine Shuk Ching Chong, Annie Tsz Wai Chu, Claudia Ching Yan Chung, Kin Lai Chung, Cheuk Wing Fung, Eva Lai Wah Fung, Yuan Gao, Stephanie Ho, Shirley Pik Ying Hue, Chi-Ho Lee, Tsz Leung Lee, Philip Hei Li, Hei Man Lo, Ivan Fai Man Lo, Herbert Ho Fung Loong, Becky Mingyao Ma, Wei Ma, Shirley Yin Yu Pang, Wai-Kay Seto, Steven Wai Kwan Siu, Ho So, Yuk Him Tam, Wenshu Tang, Rosanna Ming Sum Wong, Desmond Yat Hin Yap, Maggie Lo Yee Yau, Brian Hon Yin Chung, Su-Vui Lo on behalf of Hong Kong Genome ProjectThe Lancet Regional Health – Western Pacific
Dec 2024UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SVCherie C.Y. Au-Yeung, Yuen-Ting Cheung, Joshua Y.T. Cheng, Ken W.H. Ip, Sau-Dan Lee, Victor Y.T. Yang, Amy Y.T. Lau, Chit K.C. Lee, Peter K.H. Chong, King Wai Lau, Jurgen T.J. van Lunenburg, Damon F.D. Zheng, Brian H.M. Ho, Crystal Tik, Kingsley K.K. Ho, Ramesh Rajaby, Chun-Hang Au, Mullin H.C. Yu, Wing-Kin Sung Computers in Biology and Medicine
Nov 2024Identifying barriers and opportunities to facilitate the uptake of whole genome sequencing in paediatric haematology and oncology practiceMichelle Bishop, Aditi Vedi, Sarah Bowdin, Ruth Armstrong, Jack Bartram, David Bentley, Mark Ross, C. Elizabeth Hook, Brian Hon Yin Chung, Parker Moss, David H. Rowitch, Patrick Tarpey, Sam Behjati & Matthew J. MurrayBMC Medical Education
Mar 2024Revealing the role of SPP1+ macrophages in glioma prognosis and therapeutic targeting by investigating tumor-associated macrophage landscape in grade 2 and 3 gliomasWenshu Tang, Cario W. S. Lo, Wei Ma, Annie T. W. Chu, Amy H. Y. Tong & Brian H. Y. ChungCell & Bioscience
Feb 2024Genomics & Precision Health [Special Issue]Brian H. Y. Chung, Annie T. W. Chu (Eds.)Journal of Translational Genetics and Genomics
Feb 2024A review on trends in development and translation of omics signatures in cancerWei Ma*, Wenshu Tang*, Jamie S.L. Kwok, Amy H.Y. Tong, Cario W.S. Lo, Annie T.W. Chu, Brian H.Y. Chung, Hong Kong Genome Project (*Co-first authors)Computational and Structural Biotechnology Journal
Jan 2024Personalised genomic medicine is shaping the future of healthcareAnnie T. W. Chu, Brian H. Y. ChungJournal of Translational Genetics and Genomics
Oct 2023The Hong Kong Genome Project: building genome sequencing capacity and capability for advancing genomic science in Hong KongAnnie T. W. Chu*, Amy H. Y. Tong*, Desiree M. S. Tse, Cario W. S. Lo, Carol C. F. Lau, Cecilia Y. F. Li, Nattily S. Y. Tai, Lap W. Wong, Gigi K. C. Choy, Belinda Y. Y. Tse, Su-Vui Lo, Ken W. K. Sung, Mullin H. C. Yu, Hong Kong Genome Project, Brian H. Y. Chung (*Co-first authors)Journal of Translational Genetics and Genomics
Aug 2023The growing needs of genetic counselling – Feasibility in utilization of tele-genetic counselling in Asia and Hong KongAnnie T. W. Chu, Claudia C. Y. Chung, Shirley P. Y. Hue, Brian H. Y. ChungFrontiers in Genetics
Jun 2023Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populationsClaudia C. Y. Chung, Shirley P. Y. Hue, Nicole Y. T. Ng, Phoenix H. L. Doong, Hong Kong Genome Project, Annie T. W. Chu^, Brian H. Y. Chung^ (^Co-corresponding authors)

(This research paper was named Editor’s Choice of top five papers in 2023 by Genetics in Medicine)

Genetics in Medicine
Jun 2023INSurVeyor: improving insertion calling from short read sequencing dataRamesh Rajaby, Dongxu Liu, Chun Hang Au, Yuen Ting Cheung, Amy Y. T. Lau, Qingyong Yang, Wing Kin Sung Nature Communications
Mar 2023Marketing and publicity strategies for launching the pilot phase of the Hong Kong Genome ProjectAnnie T. W. Chu, Claudia C. Y. Chung, Hong Kong Genome Project, Su-Vui Lo, Brian H. Y. ChungJournal of Translational Genetics and Genomics
Mar 2023A report and review of the recurrent c.811C>T variant and mutation spectrum of Kindler syndrome in East Asians: a diagnostic odyssey of 2 weeks versus 49 yearsAnnie T. W. Chu*, Joshua C. K. Chan*, Jasmine L. F. Fung, Wenshu Tang, Mianne Lee, Man Ho Chung, Geoffrey Yu, Vivien Li, Calvin T. H. Ng, Hong Kong Genome Project, Brian H. Y. Chung (*Co-first authors)Rare Disease and Orphan Drugs Journal
Oct 2022Rare disease emerging as a global public health priorityClaudia C. Y. Chung, Hong Kong Genome Project, Annie T. W. Chu^, Brian H. Y. Chung^ (^Co-corresponding authors)Frontiers in Public Health
Jun 2022Potentials and challenges of launching the pilot phase of Hong Kong Genome ProjectAnnie T. W. Chu, Jasmine L. F. Fung, Amy H. Y. Tong, Sin Man Chow, Kelvin Y. K. Chan, Kit San Yeung, Hei Man Lo, Hong Kong Genome Project, Brian H. Y. ChungJournal of Translational Genetics and Genomics

Potentials and challenges of launching the pilot phase of Hong Kong Genome Project