Work

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

Year: 2025

Type: article

Study design: Observational Study

Source: Human Molecular Genetics

DOI: 10.1093/hmg/ddaf204

Authors: 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, Pui-Yan Kwok, Ni-Chung Lee

Institutions: National Taiwan University, National Taiwan University Hospital, Institute of Biomedical Sciences, Academia Sinica, Academia Sinica, Taipei Medical University, National Cheng Kung University Hospital, National Cheng Kung University, Chang Gung Memorial Hospital, Linkou Chang Gung Memorial Hospital, China Medical University, China Medical University Hospital, University of California, San Francisco

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Academia Sinica

OpenAlex ID: W7124293244

FWCI:

Cites: 20

Cited by:

Related to: