Guangqing Sun

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

Jason O'Rawe, Tao Jiang, Guangqing Sun et al. · Genome Medicine · 2013 · 469 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

Ida Moltke, Niels Grarup, Marit E. Jørgensen et al. · Nature · 2014 · 442 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Excess of Rare Variants in Genes that are Key Epigenetic Regulators of Spermatogenesis in the Patients with Non-Obstructive Azoospermia

Zesong Li, Yi Huang, Honggang Li et al. · Scientific Reports · 2015 · 56 citations · Full text

Veterinary Medicine, Genetics, Molecular Genetics +16

Exome sequencing identified a missense mutation of <i>EPS8L3</i> in Marie Unna hereditary hypotrichosis

Xin Zhang, Xin Zhang, Birong Guo et al. · Journal of Medical Genetics · 2012 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Whole-Exome Sequencing for the Identification of Susceptibility Genes of Kashin–Beck Disease

Zhenxing Yang, Yu Xu, Hongrong Luo et al. · PLoS ONE · 2014 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17