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About:hqqu

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Huiqi Qu’s research interest is the genetics and functional genomics of human complex diseases (e.g. tuberculosis, obesity, and diabetes). He is working on the genetics and functional genomics of tuberculosis and diabetes. By integrating proteomics, genomics, and GWAS study, they are trying to clarify the molecular mechanisms of tuberculosis susceptibility, and develop genetic markers for diabetes risk prediction.

Posts by hqqu :

  • 15q11.2 deletion is enriched in patients with total anomalous pulmonary venous connection, Posted on May 7, 2020 by hqqu in Uncategorized
  • Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients, Posted on May 7, 2020 by hqqu in Uncategorized
  • Understanding polygenic models, their development and the potential application of polygenic scores in healthcare, Posted on May 7, 2020 by hqqu in Uncategorized
  • Uptake of pre-symptomatic testing for BRCA1 and BRCA2 is age, gender, offspring and time dependent, Posted on May 1, 2020 by hqqu in Uncategorized
  • Novel genetic characterisation and phenotype correlation in von Hippel-Lindau (VHL) disease based on the Elongin C binding site: a large retrospective study, Posted on April 18, 2020 by hqqu in Uncategorized
  • Identifying novel oncogenic RET mutations and characterising their sensitivity to RET-specific inhibitors, Posted on April 14, 2020 by hqqu in Uncategorized
  • Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology, Posted on April 14, 2020 by hqqu in Uncategorized
  • Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank, Posted on March 17, 2020 by hqqu in Uncategorized
  • A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy, Posted on March 17, 2020 by hqqu in Uncategorized
  • Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network, Posted on March 14, 2020 by hqqu in Uncategorized
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