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Identification of technically challenging variants – whole genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases

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By Wei Ma, Chak-sing Lau, Ho-Ming Luk, Lisa Au, Shirley Cheng, Josephine Chong, Stephanie Ho, Shirley Pang, Annie Chu, Brian Chung, Hau-Yee Ng, Wai-Kei J. Lam, Becky M. Ma
| Cell Press Verified
1Hong Kong Genome Institute, Hong Kong Special Administrative Region, China 2Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong Special Administrative Region, China 3Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China 4Department of Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative...
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