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METHODS
OFFICIAL JOURNAL
A Short-Read Multiplex Sequencing Method for Reliable,
Cost-Effective and High-Throughput Genotyping in
Large-Scale Studies
Hongzhi Cao,1,2 ∗ † Yu Wang,1,3 † Wei Zhang,1 † Xianghua Chai,1 † Xiandong Zhang,1 † Shiping Chen,1 Fan Yang,1 Caifen Zhang,1
Yulai Guo,1 Ying Liu,1 Zhoubiao Tang,1 Caifen Chen,1 Yaxin Xue,1 Hefu Zhen,1 Yinyin Xu,1 Bin Rao,1 Tao Liu,1 Meiru Zhao,1
Wenwei Zhang,1 Yingrui Li,1 Xiuqing Zhang,1 Laurent C. A. M. Tellier,1,2 Anders Krogh,2 Karsten Kristiansen,2
Jun Wang,1,2,4,5 and Jian Li1,2 ∗ †
1BGI-Shenzhen, Shenzhen, China; 2 Department of Biology, University of Copenhagen, Copenhagen, Denmark; 3 School of Bioscience and
Biotechnology, South China University of Technology, Guangzhou, China; 4 King Abdulaziz University, Jeddah, Saudi Arabia; 5 The Novo Nordisk
Foundation Center for Basic Metabolic Research, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark
Communicated by Ian N. M. Day
Received 17 April 2013; accepted revised manuscript 29 August 2013.
Published online 6 September 2013 in Wiley Online Library (/humanmutation). DOI: 10.1002/humu.22439
ABSTRACT: Accurate genotyping is important for genetic be a genotyping method comparable to Sanger sequencing-
testing. Sanger sequencing-based typing is the gold stan- based typing in quality, while being more cost-effective,
dard for genotyping, but it has been underused, due to and higher throughput.
its high cost and low thr
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