Article
Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches.
EBioMedicine - 1 Jun 2026
Pang Chingyiu, Chui Martin Man-Chun, Tang Wenshu, Kwong Anna Ka-Yee, Leung Hiu Yu Cherie, Fan Sze-Shing, Kwok Alice Wing-Sze, Chan Godfrey Chi-Fung, Luk Ho Ming, Wong Rosanna Ming-Sum, Yang Wanling, Lo Ivan Fai-Man, Fung Cheuk-Wing, Tung Joanna Yuet-Ling, Liu Anthony Pak-Yin, Yeung Kit-San, Wong Sheila Suet-Na, Mak Christopher Chun-Yu, Chung Brian Hon-Yin
Abstract excerpt
BACKGROUND: Despite significant advancements in genetic diagnosis, there are still bottlenecks in DNA-level testing. Challenges to diagnosis include the inability to identify the causal variant, and the lack of functional evidence leading to an accumulation of variants of uncertain significance (VUS). Recently, there has been growing evidence demonstrating the diagnostic value of RNA sequencing (RNA-seq)....
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