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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 :

  • Evaluating the efficiency of nanopore adaptive sampling sequencing in detecting balanced translocation (Contributed by Meng Gao), Posted on February 25, 2026 by hqqu in Uncategorized
  • End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes (Contributed by Dr. Layla Damen), Posted on February 21, 2026 by hqqu in Uncategorized
  • Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants (Contributed by Dr Anna H Hakonen), Posted on February 21, 2026 by hqqu in Uncategorized
  • Reasoning Based AI in Rare Disease Diagnosis, Posted on February 19, 2026 by hqqu in Uncategorized
  • Toward calibrated variant effect estimates, Posted on February 17, 2026 by hqqu in Uncategorized
  • Reclassification of variants of uncertain significance in type 1 collagen genes: a national reference laboratory experience (Contributed by Professor Meena Balasubramanian), Posted on February 13, 2026 by hqqu in Uncategorized
  • Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension (Contributed by Carrie L Welch), Posted on February 5, 2026 by hqqu in Uncategorized
  • MITF (p.E318K) and renal cell carcinoma: current evidence does not support an effect (Contributed by Drs. Eiríkur Steingrímsson and Valentin Yves Walker), Posted on February 5, 2026 by hqqu in Uncategorized
  • Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings (Contributed by Zehra Manav Yigit, MD), Posted on January 19, 2026 by hqqu in Uncategorized
  • Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies (Contributed by Dr. Lucia N. Moro), Posted on January 1, 2026 by hqqu in Uncategorized
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