Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome.

Lee, Heerah; Lee, Jung Ae; Lee, Hyesu; Lee, Jee-Soo; Ko, Jung Min; Kim, Man Jin; Seong, Moon-Woo

Lee, Heerah; Lee, Jung Ae; Lee, Hyesu; Lee, Jee-Soo; Ko, Jung Min; Kim, Man Jin; Seong, Moon-Woo.

Afiliación

Lee H; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Lee JA; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Lee H; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Lee JS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Ko JM; Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Kim MJ; Rare Disease Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Seong MW; Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Ann Lab Med ; 43(6): 638-641, 2023 11 01.

Article en En | MEDLINE | ID: mdl-37387500

Asunto(s)

Secuenciación de Nucleótidos de Alto Rendimiento; Seudogenes; Humanos; Síndrome de Shwachman-Diamond; Frecuencia de los Genes

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Seudogenes / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Ann Lab Med Año: 2023 Tipo del documento: Article Pais de publicación: Corea del Sur

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