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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 :

  • A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype, Posted on February 17, 2015 by hqqu in Uncategorized
  • BRCA1 Circos: a visualisation resource for functional analysis of missense variants, Posted on February 2, 2015 by hqqu in Uncategorized
  • Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing, Posted on January 29, 2015 by hqqu in Uncategorized
  • DCAF4, a novel gene associated with leucocyte telomere length, Posted on January 27, 2015 by hqqu in Uncategorized
  • MuSK – a novel gene for fetal death, Posted on January 23, 2015 by hqqu in Uncategorized
  • Mutation in RNF113A that shines a new light on trichothiodystrophy, Posted on January 22, 2015 by hqqu in Uncategorized
  • Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1, Posted on January 22, 2015 by hqqu in Uncategorized
  • Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature, Posted on January 21, 2015 by hqqu in Uncategorized
  • mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing, Posted on January 16, 2015 by hqqu in Uncategorized
  • SeqHBase: a big data toolset for family-based sequencing data analysis, Posted on January 13, 2015 by hqqu in Uncategorized
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