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.

Afiliação

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 em En | MEDLINE | ID: mdl-37795942

Assuntos

Epilepsia; Doenças Raras; Humanos; Sequenciamento do Exoma; Estudos Prospectivos; Doenças Raras/genética; Epilepsia/genética; República da Coreia

Palavras-chave

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

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Raras / Epilepsia Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País como assunto: Asia Idioma: En Ano de publicação: 2024 Tipo de documento: Article

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