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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 :

  • Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy (Contributed by Dr. Johanna Herkert), Posted on September 25, 2019 by hqqu in Uncategorized
  • Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status (Contributed by Dr. George Burghel), Posted on September 25, 2019 by hqqu in Uncategorized
  • Genetic aetiology of early infant deaths in a neonatal intensive care unit (Contributed by Drs. Xu Liu and Lin Yang), Posted on September 25, 2019 by hqqu in Uncategorized
  • Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease (Contributed by Dr Kevin Mills), Posted on September 14, 2019 by hqqu in Uncategorized
  • Impact of DNA source on genetic variant detection from human whole-genome sequencing data (Contributed by Dr. Brett Trost), Posted on September 14, 2019 by hqqu in Uncategorized
  • Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation (Contributed by Prof. Kyproula Christodoulou), Posted on September 14, 2019 by hqqu in Uncategorized
  • Germline BRCA1 and BRCA2 testing for breast cancer survivors (Contributed by Dr Zoe Kemp), Posted on September 14, 2019 by hqqu in Uncategorized
  • Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere’s disease (Contributed by Dr. Alvaro Gallego-Martinez), Posted on September 9, 2019 by hqqu in Uncategorized
  • Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy (Contributed by Dr. Johanna Herkert), Posted on September 9, 2019 by hqqu in Uncategorized
  • High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers (Contributed by Dr. Fátima Marín), Posted on September 9, 2019 by hqqu in Uncategorized
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