Article
Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China.
Journal of clinical laboratory analysis - 1 Aug 2021
Zhang Luying, Yu Jie, Xian Ying, Wen Xianhao, Guan Xianmin, Guo Yuxia, Luo Mingzhu, Dou Ying
Abstract excerpt
BACKGROUND: The aim of this study was to design and analyze the applicability of a 21-gene high-throughput sequencing (HTS) panel in the molecular diagnosis of patients with hereditary thrombocytopenia (HT). METHODS: A custom target enrichment library was designed to capture 21 genes known to be associated with HTs. Twenty-four patients with an HT phenotype were studied using this technology. RESULTS: One...
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