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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 :

  • Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics (Contributed by Dr. Paul Dremsek), Posted on January 14, 2025 by hqqu in Uncategorized
  • Aortic and Arterial Manifestations and Clinical Features in TGFB3-Related Heritable Thoracic Aortic Disease: Results from the Montalcino Aortic Consortium (Contributed by Dr. Michelle Su-Anne Lim), Posted on January 14, 2025 by hqqu in Uncategorized
  • Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis (Contributed by Dr. Yinghong Pan), Posted on January 14, 2025 by hqqu in Uncategorized
  • Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates (Contributed by Dr. Fulvio D’Abrusco), Posted on January 14, 2025 by hqqu in Uncategorized
  • Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer (Contributed by Dr. Anna Byrjalsen), Posted on January 14, 2025 by hqqu in Uncategorized
  • From onset to blindness: a comprehensive analysis of RPGR-associated X-linked retinopathy in a large cohort in China (Contributed by Jiawen Wu and Jihong Wu), Posted on January 14, 2025 by hqqu in Uncategorized
  • Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank (Contributed by Eilidh Fummey), Posted on January 14, 2025 by hqqu in Uncategorized
  • Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa (Contributed by Minako Hijikata, Kozo Morimoto, Masashi Ito, Keiko Wakabayashi, Akiko Miyabayashi, and Naoto Keicho), Posted on January 14, 2025 by hqqu in Uncategorized
  • Li-Fraumeni Syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript (Contributed by Dr Gaëlle Bougeard-Denoyelle), Posted on January 12, 2025 by hqqu in Uncategorized
  • Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries (Contributed by Eric Lee), Posted on January 3, 2025 by hqqu in Uncategorized
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