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Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing.

Human molecular genetics - 23 Feb 2026

Tsai Meng-Ju Melody, Kao Hsiao-Jung, Wei Chun-Yu, Chen Hsiao-Huei, Chou Yen-Yin, Hung Miao-Zi, Hsueh Hsueh-Wen, Hsieh Sung-Tsang, Fan Pi-Chuan, Tu Yi-Fang, Lin Ju-Li, Chen Hui-An, Hsu Rai-Hseng, Chien Yin-Hsiu, Hwu Wuh-Liang, Kwok Pui-Yan, Lee Ni-Chung

Abstract excerpt

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 Full-Genome Analysis (FGA), an integrated approach that combines short-read whole-genome sequencing (WGS), 10x Genomics linked-read sequencing, and Bionano optical...

Read the complete abstract on PubMed

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Identifiers

PMID: 41536042
DOI: 10.1093/hmg/ddaf204

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FGA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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