Journal article
Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders
J Zhang, P Barbaro, Y Guo, A Alodaib, J Li, W Gold, L Adès, BJ Keating, X Xu, J Teo, H Hakonarson, J Christodoulou
Clinical Genetics | WILEY | Published : 2016
DOI: 10.1111/cge.12573
Abstract
Next-generation sequencing (NGS) has now evolved to be a relatively affordable and efficient means of detecting genetic mutations. Whole genome sequencing (WGS) or whole exome sequencing (WES) offers the opportunity for rapid diagnosis in many paediatric haematological conditions, where phenotypes are variable and either a large number of genes are involved, or the genes are large making sanger sequencing expensive and labour-intensive. NGS offers the potential for gene discovery in patients who do not have mutations in currently known genes. This report shows how WES was used in the diagnosis of six paediatric haematology cases. In four cases (Diamond-Blackfan anaemia, congenital neutropeni..
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Awarded by Shenzhen Municipal Government of China
Awarded by Shenzhen Key Laboratory of Genomics
Awarded by Guangdong Enterprise Key Laboratory of Human Disease Genomics
Funding Acknowledgements
This research was supported by a PhD Scholarship to A. A. provided by the Academic and Training Affairs at King Faisal Specialist Hospital and Research Center (KFSHRC) and the Ministry of Higher Education (MOHE) in Riyadh, Saudi Arabia, and by grants from the Shenzhen Municipal Government of China (NO. CXZZ20130517144604091), the Shenzhen Key Laboratory of Genomics (NO. CXB200903110066A) and the Guangdong Enterprise Key Laboratory of Human Disease Genomics (NO. 2011A060906007). The study was also supported by Institutional Development Funds to Dr. Hakon Hakonarson in the Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP).