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Human Genomics · 2023 · 11 citations · 11 references
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Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
Aaron M. Wenger, Paul Peluso, William J. Rowell et al. · Nature Biotechnology · 2019 · 1.8K citations · Full text
Long-read Sequencing, Functional Genomics, Accurate Circular Consensus +14
Rapid detection of α‐thalassaemia deletions and α‐globin gene triplication by multiplex polymerase chain reactions
Liu, Old, Miles et al. · British Journal of Haematology · 2000 · 359 citations
Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China
Fu Xiong, Manna Sun, X Zhang et al. · Clinical Genetics · 2010 · 244 citations
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies
Xuan Shang, Zhiyu Peng, Yuhua Ye et al. · EBioMedicine · 2017 · 195 citations · Full text
The Prevalence and Molecular Spectrum of α- and β-Globin Gene Mutations in 14,332 Families of Guangdong Province, China
Aihua Yin, Bing Li, Mingyong Luo et al. · PLoS ONE · 2014 · 128 citations · Full text