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基因组医学 – 专家系列

【基因组医学．缘起】梁宪孙教授 - 香港基因组中心董事局副主席、血液肿瘤科专科医生
2023-03-02
【基因组医学．建立】叶玉如教授 - 国际知名神经生物学家
2022-08-23
【基因组医学．普及】刘泽星教授 - 香港基因组中心董事局成员、风湿及临床免疫学权威
2023-03-02
【基因组医学．未来】卢煜明教授 - 香港基因组中心董事局成员、无创产检之父
2022-08-24
【香港基因组中心】 - 普及基因组医学 (1分钟版)
2022-10-27
【香港基因组中心】- 普及基因组医学 (完整版)
2022-10-27

讲座及活动花絮

香港基因组计划详情 - 动画版

香港基因组计划详情

看见病因的故事

香港基因组中心2023-24年报
电子书版本
PDF版本
年度大事速览
改变生命的故事
2024-12-06
香港基因组中心2022-23年报
电子书版本
PDF版本
年度大事速览
2023-11-30
香港基因组中心2021-22年报
电子书版本
PDF版本
年度回顾
2022-12-19
香港基因组中心2025-30策略计划
电子书版本
PDF版本
摘要
2025-06-30
香港基因组中心2022-25策略计划
PDF版本
摘要
2022-07-11
计划简介单张
2021-08-15
参加者小册子（适用于12-17岁参加者）
2021-08-15
参加者小册子（适用于18岁或以上参加者）
2021-07-20
日期题目及作者期刊出版机构
2025年10月Integrated genomic and transcriptomic profiling of glioblastoma reveals ecDNA-driven heterogeneity and microenvironmental reprogramming (只提供英文版本)Wenshu Tang, Wing Lun Lee, Cario W.S. Lo, Annie T.W. Chu, Karrie Mei-Yee Kiang, Wei Ma, Amy H.Y. Tong, Dingge Ying, Jamie S.L. Kwok, David Shih, Gilberto K.K. Leung, Aya El Helali, Brian H.Y. ChungCell Reports
2025年09月Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project (只提供英文版本)Anson Man Chun Xi*, Denis Long Him Yeung*, Wei Ma, Dingge Ying, Amy Hin Yan Tong, Dicky Or, Shirley Pik Ying Hue, Hong Kong Genome Project, Annie Tsz-Wai Chu, Brian Hon-Yin Chung (*Co-first authors)Briefings in Bioinformatics
2025年06月Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases (只提供英文版本)Hau-Yee Ng*, Wei Ma*, Wai-Kei J. Lam, Chak-Sing Lau, Ho-Ming Luk, Lisa W.C. Au, Shirley S.W. Cheng, Josephine S.C. Chong, Stephanie Ho, Becky M. Ma, Shirley Y.Y. Pang, Hong Kong Genome Project, Annie T.W. Chu, Brian H.Y. Chung (*Co-first authors)Human Genetics and Genomics Advances
2025年05月A roadmap for genome projects to foster psychosocial and economic evidence to further policy and practice (只提供英文版本)Claudia C.Y. Chung, Annie T.W. Chu, Brian H.Y. ChungCommunications Medicine
2025年04月Experiences of participants with undiagnosed diseases and hereditary cancers during the initial phase of the Hong Kong genome project: a mixed-methods study (只提供英文版本)Annie 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
2025年03月Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project (只提供英文版本)Dingge 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
2025年03月A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong (只提供英文版本)Desiree Man Sik Tse; Brian Hon Yin Chung; Hong Kong Genetic Counselling Practice Consortium; Hong Kong Genome Project; Annie Tsz Wai ChuJournal of Human Genetics
2025年02月The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project (只提供英文版本)Wai 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
2024年12月UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SV (只提供英文版本)Cherie 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
2024年11月Identifying barriers and opportunities to facilitate the uptake of whole genome sequencing in paediatric haematology and oncology practice (只提供英文版本)Michelle 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
2024年03月Revealing the role of SPP1+ macrophages in glioma prognosis and therapeutic targeting by investigating tumor-associated macrophage landscape in grade 2 and 3 gliomas (只提供英文版本)Wenshu Tang, Cario W. S. Lo, Wei Ma, Annie T. W. Chu, Amy H. Y. Tong & Brian H. Y. ChungCell & Bioscience
2024年03月Revealing the role of SPP1+ macrophages in glioma prognosis and therapeutic targeting by investigating tumor-associated macrophage landscape in grade 2 and 3 gliomas (只提供英文版本)Wenshu Tang, Cario W. S. Lo, Wei Ma, Annie T. W. Chu, Amy H. Y. Tong & Brian H. Y. ChungCell & Bioscience
2024年02月Genomics & Precision Health [Special Issue] (只提供英文版本)Brian H. Y. Chung, Annie T. W. Chu (Eds.)Journal of Translational Genetics and Genomics
2024年02月A review on trends in development and translation of omics signatures in cancer (只提供英文版本)Wei 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
2024年01月Personalised genomic medicine is shaping the future of healthcare (只提供英文版本)Annie T. W. Chu, Brian H. Y. ChungJournal of Translational Genetics and Genomics
2023年10月The Hong Kong Genome Project: building genome sequencing capacity and capability for advancing genomic science in Hong Kong (只提供英文版本)Annie 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
2023年08月The growing needs of genetic counselling – Feasibility in utilization of tele-genetic counselling in Asia and Hong Kong (只提供英文版本)Annie T. W. Chu, Claudia C. Y. Chung, Shirley P. Y. Hue, Brian H. Y. ChungFrontiers in Genetics
2023年06月Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations (只提供英文版本)Claudia 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)

(此论文获Genetics in Medicine选为2023年度五大论文之一)

Genetics in Medicine
2023年06月INSurVeyor: improving insertion calling from short read sequencing data (只提供英文版本)Ramesh Rajaby, Dongxu Liu, Chun Hang Au, Yuen Ting Cheung, Amy Y. T. Lau, Qingyong Yang, Wing Kin Sung Nature Communications
2023年03月Marketing and publicity strategies for launching the pilot phase of the Hong Kong Genome Project (只提供英文版本)Annie T. W. Chu, Claudia C. Y. Chung, Hong Kong Genome Project, Su-Vui Lo, Brian H. Y. ChungJournal of Translational Genetics and Genomics
2023年03月A 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 years (只提供英文版本)Annie 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
2022年10月Rare disease emerging as a global public health priority (只提供英文版本)Claudia C. Y. Chung, Hong Kong Genome Project, Annie T. W. Chu^, Brian H. Y. Chung^ (^Co-corresponding authors)Frontiers in Public Health
2022年06月Potentials and challenges of launching the pilot phase of Hong Kong Genome Project (只提供英文版本)Annie 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
【精准诊断：澳洲线粒体疾病旗舰计划】
2025-08-15
【癌症全基因组的突变特征分析】
2025-05-16
【加快诊断罕见病：从快速测序到新生婴儿基因筛查】
2025-02-28
【推动基因编辑疗法】
2024-12-17
【国际协作 推动基因组医学】
2024-09-24
【探讨香港个案：近视与遗传及现代生活习惯的关系】
2025-10-02
【香港基因组计划个案分享：精准医学于肾科的临床应用】
2025-08-27
【凡事皆可能：从临床服务到科研创业的经验分享】
2025-07-09
【以人工智能优化基因组数据分析】
2025-06-27

Potentials and challenges of launching the pilot phase of Hong Kong Genome Project (只提供英文版本)