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Consistent count region-copy number variation (CCR-CNV): an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data.
Kim, Man Jin; Lee, Sungyoung; Yun, Hongseok; Cho, Sung Im; Kim, Boram; Lee, Jee-Soo; Chae, Jong Hee; Sun, Choonghyun; Park, Sung Sup; Seong, Moon-Woo.
Afiliación
  • Kim MJ; Department of Genomic Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Lee S; Department of Genomic Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea; Center for Precision Medicine, Seoul National University Hospital, Seoul, Korea.
  • Yun H; Department of Genomic Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea; Center for Precision Medicine, Seoul National University Hospital, Seoul, Korea.
  • Cho SI; Center for Precision Medicine, Seoul National University Hospital, Seoul, Korea.
  • Kim B; Center for Precision Medicine, Seoul National University Hospital, Seoul, Korea.
  • Lee JS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Chae JH; Department of Genomic Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea; Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Sun C; Genome Opinion Inc, Seoul, Korea.
  • Park SS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea. Electronic address: MWSeong@snu.ac.kr.
Genet Med ; 24(3): 663-672, 2022 03.
Article en En | MEDLINE | ID: mdl-34906491
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article