Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing.
Saved in:
| Title: | Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing. |
|---|---|
| Authors: | Tsai MM; Departments of Pediatrics, National Taiwan University Hospital, No. 8, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan.; Departments of Medical Genetics, National Taiwan University Hospital, No. 7, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan.; Department of Pediatrics, National Taiwan University College of Medicine, No. 1, Section 1, Ren'ai Road, Zhongzheng District, Taipei 100, Taiwan., Kao HJ; Institute of Biomedical Sciences, Academia Sinica, No. 128, Academia Road, Section 2, Nangang District, Taipei 115, Taiwan., Wei CY; Institute of Biomedical Sciences, Academia Sinica, No. 128, Academia Road, Section 2, Nangang District, Taipei 115, Taiwan.; Core Laboratory of Neoantigen Analysis for Personalized Cancer Vaccine, Office of R&D, Taipei Medical University, No. 250, Wuxing Street, Xinyi District, Taipei 110, Taiwan., Chen HH; Institute of Biomedical Sciences, Academia Sinica, No. 128, Academia Road, Section 2, Nangang District, Taipei 115, Taiwan., Chou YY; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, No. 138, Shengli Road, East District, Tainan 704, Taiwan., Hung MZ; Departments of Medical Genetics, National Taiwan University Hospital, No. 7, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan., Hsueh HW; Departments of Neurology, National Taiwan University Hospital, No. 7, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan.; Department of Anatomy and Cell Biology, National Taiwan University College of Medicine, No. 1, Section 1, Ren'ai Road, Zhongzheng District, Taipei 100, Taiwan.; Department of Neurology, National Taiwan University Hospital Hsin-Chu Branch, No. 25, Lane 442, Section 1, Jingguo Road, East District, Hsin-Chu 300, Taiwan., Hsieh ST; Departments of Neurology, National Taiwan University Hospital, No. 7, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan.; Department of Anatomy and Cell Biology, National Taiwan University College of Medicine, No. 1, Section 1, Ren'ai Road, Zhongzheng District, Taipei 100, Taiwan., Fan PC; Departments of Pediatrics, National Taiwan University Hospital, No. 8, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan., Tu YF; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, No. 138, Shengli Road, East District, Tainan 704, Taiwan., Lin JL; Department of Pediatrics, New Taipei Municipal Tu Cheng Hospital (Built and Operated by Chang Gung Medical Foundation) & Chang Gung Memorial Hospital at Linkou, No. 6, Section 2, Jincheng Road, Tucheng District, New Taipei City 236, Taiwan., Chen HA; Departments of Pediatrics, National Taiwan University Hospital, No. 8, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan.; Departments of Medical Genetics, National Taiwan University Hospital, No. 7, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan.; Department of Pediatrics, National Taiwan University College of Medicine, No. 1, Section 1, Ren'ai Road, Zhongzheng District, Taipei 100, Taiwan., Hsu RH; Departments of Pediatrics, National Taiwan University Hospital, No. 8, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan.; Departments of Medical Genetics, National Taiwan University Hospital, No. 7, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan.; Department of Pediatrics, National Taiwan University College of Medicine, No. 1, Section 1, Ren'ai Road, Zhongzheng District, Taipei 100, Taiwan., Chien YH; Departments of Pediatrics, National Taiwan University Hospital, No. 8, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan.; Departments of Medical Genetics, National Taiwan University Hospital, No. 7, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan.; Department of Pediatrics, National Taiwan University College of Medicine, No. 1, Section 1, Ren'ai Road, Zhongzheng District, Taipei 100, Taiwan., Hwu WL; Departments of Medical Genetics, National Taiwan University Hospital, No. 7, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan.; Department of Pediatrics, National Taiwan University College of Medicine, No. 1, Section 1, Ren'ai Road, Zhongzheng District, Taipei 100, Taiwan.; Center for Precision Medicine, China Medical University Hospital, China Medical University, No. 2, Yude Road, North District, Taichung 404, Taiwan., Kwok PY; Institute of Biomedical Sciences, Academia Sinica, No. 128, Academia Road, Section 2, Nangang District, Taipei 115, Taiwan.; Cardiovascular Research Institute, Institute for Human Genetics, and Department of Dermatology, University of California, 513 Parnassus Avenue, San Francisco, CA 94143, United States., Lee NC; Departments of Pediatrics, National Taiwan University Hospital, No. 8, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan.; Departments of Medical Genetics, National Taiwan University Hospital, No. 7, Zhongshan South Road, Zhongzheng District, Taipei 100, Taiwan.; Department of Pediatrics, National Taiwan University College of Medicine, No. 1, Section 1, Ren'ai Road, Zhongzheng District, Taipei 100, Taiwan. |
| Source: | Human molecular genetics [Hum Mol Genet] 2026 Feb 23; Vol. 35 (4). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
Be the first to leave a comment!
