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Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays.
Fan, Yanjie; Wang, Lili; Sun, Yu; Xu, Ting; Gong, Zhuwen; Zhao, Qianfeng; Qiu, Wenjuan; Liang, Lili; Xiao, Bing; Zhang, Huiwen; Han, Lianshu; Lin, Fujun; Xu, Rang; Gu, Xuefan; Yu, Yongguo.
Afiliación
  • Fan Y; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China. fanyanjie@shsmu.edu.cn.
  • Wang L; Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China. fanyanjie@shsmu.edu.cn.
  • Sun Y; Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, 200092, China. fanyanjie@shsmu.edu.cn.
  • Xu T; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Gong Z; Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Zhao Q; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Qiu W; Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Liang L; Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, 200092, China.
  • Xiao B; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Zhang H; Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Han L; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Lin F; Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Xu R; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Gu X; Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Yu Y; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
J Hum Genet ; 66(4): 409-417, 2021 Apr.
Article en En | MEDLINE | ID: mdl-33040084
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polimorfismo de Nucleótido Simple / Genes Recesivos / Enfermedades Genéticas Congénitas / Homocigoto Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Polimorfismo de Nucleótido Simple / Genes Recesivos / Enfermedades Genéticas Congénitas / Homocigoto Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: China