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Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases.
Liu, Hong-Yan; Zhou, Liyuan; Zheng, Meng-Yue; Huang, Jia; Wan, Shu; Zhu, Aiying; Zhang, Mingjie; Dong, Anliang; Hou, Ling; Li, Jia; Xu, Haiming; Lu, Bingjian; Lu, Weiguo; Liu, Pengyuan; Lu, Yan.
Afiliación
  • Liu HY; Department of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, Henan, 450003, China.
  • Zhou L; Department of Respiratory Medicine, Sir Run Run Shaw Hospital and Institute of Translational Medicine, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310016, China.
  • Zheng MY; Women's Reproductive Health Key Laboratory of Zhejiang Province, Department of Gynecologic Oncology, Women's Hospital and Institute of Translational Medicine, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310006, China.
  • Huang J; Department of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, Henan, 450003, China.
  • Wan S; Department of Neurosurgery, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310003, China.
  • Zhu A; Department of Dermatology, People's Hospital of Lushi County, Lushi, Henan, 472200, China.
  • Zhang M; Department of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, Henan, 450003, China.
  • Dong A; Women's Reproductive Health Key Laboratory of Zhejiang Province, Department of Gynecologic Oncology, Women's Hospital and Institute of Translational Medicine, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310006, China.
  • Hou L; Women's Reproductive Health Key Laboratory of Zhejiang Province, Department of Gynecologic Oncology, Women's Hospital and Institute of Translational Medicine, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310006, China.
  • Li J; Department of Respiratory Medicine, Sir Run Run Shaw Hospital and Institute of Translational Medicine, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310016, China.
  • Xu H; Institute of Bioinformatics, Zhejiang University, Hangzhou, Zhejiang, 310058, China.
  • Lu B; Women's Reproductive Health Key Laboratory of Zhejiang Province, Department of Gynecologic Oncology, Women's Hospital and Institute of Translational Medicine, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310006, China.
  • Lu W; Women's Reproductive Health Key Laboratory of Zhejiang Province, Department of Gynecologic Oncology, Women's Hospital and Institute of Translational Medicine, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310006, China.
  • Liu P; Department of Respiratory Medicine, Sir Run Run Shaw Hospital and Institute of Translational Medicine, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310016, China. pyliu@zju.edu.cn.
  • Lu Y; Center of Systems Molecular Medicine, Department of Physiology, Medical College of Wisconsin, Milwaukee, WI, 53226, USA. pyliu@zju.edu.cn.
Sci Rep ; 9(1): 19365, 2019 12 18.
Article en En | MEDLINE | ID: mdl-31852928
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Raras / Pueblo Asiatico / Secuenciación Completa del Genoma / Enfermedades no Diagnosticadas Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Sci Rep Año: 2019 Tipo del documento: Article País de afiliación: China
Texto completo
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XML
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Raras / Pueblo Asiatico / Secuenciación Completa del Genoma / Enfermedades no Diagnosticadas Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Sci Rep Año: 2019 Tipo del documento: Article País de afiliación: China