Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.

Lee, Ja Young; Oh, Seung-Hwan; Keum, Changwon; Lee, Bo Lyun; Chung, Woo Yeong

Lee, Ja Young; Oh, Seung-Hwan; Keum, Changwon; Lee, Bo Lyun; Chung, Woo Yeong.

Afiliación

Lee JY; Department of Laboratory Medicine, Inje University College of Medicine, Busan, South Korea.
Oh SH; Department of Laboratory Medicine, Pusan National University School of Medicine, Yangsan, South Korea.
Keum C; 3billion Inc., Seoul, South Korea.
Lee BL; Department of Pediatrics, Inje University College of Medicine, Busan, South Korea.
Chung WY; Department of Pediatrics, Inje University College of Medicine, Busan, South Korea.

Ann Hum Genet ; 88(2): 101-112, 2024 03.

Article en En | MEDLINE | ID: mdl-37795942

Asunto(s)

Epilepsia; Enfermedades Raras; Humanos; Secuenciación del Exoma; Estudios Prospectivos; Enfermedades Raras/genética; Epilepsia/genética; República de Corea

Palabras clave

diagnosis; rare genetic disease; undiagnosed Mendelian disorders; whole-exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Raras / Epilepsia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Ann Hum Genet Año: 2024 Tipo del documento: Article País de afiliación: Corea del Sur

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