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Hui-Qi Qu

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Open access Oct 2026

Applying AlphaGenome Variant Impact for SNV Prioritization

AlphaGenome Atlas, released in September 2026, provides functional predictions for nearly all possible human single-nucleotide variants using the AlphaGenome Variant Impact (AVI) score. However, empirical thresholds relating AVI quantile rank (AVI_QUANTILE) to clinical variant classifications have not been established....

Hui-Qi Qu, H. Hakonarson · 0 citations
Open access Sep 2026

Precision Medicine 3.0: Integrating Genomic Stratification with Adaptive Therapeutic Trajectories

Complex diseases require therapeutic decisions that adapt as the disease evolves over time and in response to treatment. Current precision medicine remains largely centered on selecting an individual drug or predefined regimen from molecular characteristics measured at a particular time. The next evolution of precision...

Hui-Qi Qu, H. Hakonarson · 0 citations
Open access Aug 2026

Shared genetic architecture and therapeutic targets across paediatric immune-mediated diseases.

Paediatric IMIDs shared broad polygenic architecture with adult IMIDs, whereas top-ranked genes converged strongly with adult rheumatic diseases, providing a genomic framework for paediatric precision medicine, guiding classification, risk prediction, and therapeutic development.

Jin Li, Hui-Qi Qu, Michael E. March et al. · 0 citations
Open access Jul 2026

Drug repurposing opportunities across 92 CNS-related conditions using deep learning and whole-genome sequencing

Variant-class-resolved WGS pathway prioritization coupled to curated pharmacology enables scalable cross-diagnosis repurposing using existing drugs, recovering clinically explored strategies and generating genetically supported hypotheses for biomarker-guided validation.

Yi-Chuan Liu, Hui-Qi Qu, F. Mentch et al. · 0 citations
Open access Aug 2026

SYCP3 enhances prostate cancer metastasis and modulates the DNA damage response pathway

Biological validation analyses showed that SYCP3 depletion significantly reduced the invasive and migratory abilities of DU145 cells and increased their adhesion capacity, suggesting a role for SYCP3 in DNA damage response and genomic instability in PCa metastasis.

M. Rodrigo-Faus, I. Del Monte-Garcia, Marina Hermosilla-Trespaderne et al. · 0 citations
Review Open access Sep 2026

Deep generative models in biological sequence and structure analysis and design.

This review examines generative models for DNA, RNA, and protein sequence design, emphasizing how different model classes represent biological constraints, operate over discrete and continuous spaces, and integrate sequence, structure, and function.

Fahimeh Palizban, Mohammadmahdi Sarbishegi, Hui-Qi Qu et al. · 0 citations

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