Experiences of participants with undiagnosed diseases and hereditary cancers during the initial phase of the Hong Kong genome project: a mixed-methods study
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project
A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project
UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SV
Identifying barriers and opportunities to facilitate the uptake of whole genome sequencing in paediatric haematology and oncology practice
Revealing the role of SPP1+ macrophages in glioma prognosis and therapeutic targeting by investigating tumor-associated macrophage landscape in grade 2 and 3 gliomas
