Human molecular genetics
Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing.
Meng-Ju Melody Tsai, Hsiao-Jung Kao, Chun-Yu Wei, Hsiao-Huei Chen, Yen-Yin Chou, Miao-Zi Hung, Hsueh-Wen Hsueh, Sung-Tsang Hsieh, Pi-Chuan Fan, Yi-Fang Tu, Ju-Li Lin, Hui-An Chen, Rai-Hseng Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu
Published: 202610.1093/hmg/ddaf204
Abstract
Despite advances in exome and genome sequencing, many patients with suspected genetic disorders remain undiagnosed due to limitations in detecting complex structural variants. This study aimed to evaluate the diagnostic yield and clinical utility of…
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