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About:hqqu

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Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.

Posts by hqqu :

  • Biallelic variants in DNAH10 are associated with skeletalf developmental abnormalities and ciliary dysfunction (Contributed by Rui Zheng), Posted on May 9, 2026 by hqqu in Uncategorized
  • Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service, Posted on May 2, 2026 by hqqu in Uncategorized
  • Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohort (Contributed by Chanatjit Cheawsamoot), Posted on April 28, 2026 by hqqu in Uncategorized
  • Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers (Contributed by Prof. Rani Elkon), Posted on April 25, 2026 by hqqu in Uncategorized
  • VHL gene fragment analysis: large inversion detection in Alu region for clinical applications (Contributed by Ryan Baugher), Posted on April 25, 2026 by hqqu in Uncategorized
  • Field Watch: FDA’s genome-editing guidance, Posted on April 20, 2026 by hqqu in Uncategorized
  • Optical Genome Mapping Identifies Previously Undetected Causal Variants in Early-Onset Developmental Epileptic Encephalopathies (Contributed by Sanem Yilmaz), Posted on April 17, 2026 by hqqu in Uncategorized
  • Clinical Characteristics and Prognosis of SDHD Pathogenic Variant Carriers: A Systematic Review and Meta-Analysis (Contributed by Professor Bo Shen), Posted on April 16, 2026 by hqqu in Uncategorized
  • JMG investigated and acted, Posted on April 15, 2026 by hqqu in Uncategorized
  • ACAN-related disorder, antenatal presentation and phenotypic variability: A Case Series (Contributed by Dr Nikhil Pattani), Posted on April 11, 2026 by hqqu in Uncategorized
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