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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Liu, Jiaqi; Zhou, Yangzhong; Liu, Sen; Song, Xiaofei; Yang, Xin-Zhuang; Fan, Yanhui; Chen, Weisheng; Akdemir, Zeynep Coban; Yan, Zihui; Zuo, Yuzhi; Du, Renqian; Liu, Zhenlei; Yuan, Bo; Zhao, Sen; Liu, Gang; Chen, Yixin; Zhao, Yanxue; Lin, Mao; Zhu, Qiankun; Niu, Yuchen; Liu, Pengfei; Ikegawa, Shiro; Song, You-Qiang; Posey, Jennifer E; Qiu, Guixing; Zhang, Feng; Wu, Zhihong; Lupski, James R; Wu, Nan.
Afiliación
  • Liu J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.
  • Zhou Y; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.
  • Liu S; Department of Breast Surgical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100021, China.
  • Song X; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.
  • Yang XZ; Department of Internal Medicine, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.
  • Fan Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.
  • Chen W; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.
  • Akdemir ZC; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China.
  • Yan Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Zuo Y; Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100730, China.
  • Du R; School of Biomedical Sciences, The University of Hong Kong, Hong Kong, China.
  • Liu Z; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.
  • Yuan B; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.
  • Zhao S; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China.
  • Liu G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Chen Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.
  • Zhao Y; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.
  • Lin M; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China.
  • Zhu Q; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.
  • Niu Y; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.
  • Liu P; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China.
  • Ikegawa S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Song YQ; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.
  • Posey JE; Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China.
  • Qiu G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Zhang F; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.
  • Wu Z; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, 100730, China.
  • Lupski JR; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.1 Shuaifuyuan, Beijing, 100730, China.
  • Wu N; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, 100730, China.
Hum Genet ; 137(6-7): 553-567, 2018 Jul.
Article en En | MEDLINE | ID: mdl-30019117

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Escoliosis / Anomalías Congénitas / Predisposición Genética a la Enfermedad / Variaciones en el Número de Copia de ADN Tipo de estudio: Risk_factors_studies Límite: Adolescent / Female / Humans Idioma: En Revista: Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: China

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Escoliosis / Anomalías Congénitas / Predisposición Genética a la Enfermedad / Variaciones en el Número de Copia de ADN Tipo de estudio: Risk_factors_studies Límite: Adolescent / Female / Humans Idioma: En Revista: Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: China