Copy-number analysis by base-level normalization: An intuitive visualization tool for evaluating copy number variations.

Kim, Hongkyung; Shim, Yeeun; Lee, Taek Gyu; Won, Dongju; Choi, Jong Rak; Shin, Saeam; Lee, Seung-Tae

Kim, Hongkyung; Shim, Yeeun; Lee, Taek Gyu; Won, Dongju; Choi, Jong Rak; Shin, Saeam; Lee, Seung-Tae.

Afiliación

Kim H; Department of Laboratory Medicine, Yonsei University College of Medicine, Severance Hospital, Seoul, Republic of Korea.
Shim Y; Brain Korea 21 PLUS Project for Medical Science, Yonsei University, Seoul, Republic of Korea.
Lee TG; Brain Korea 21 PLUS Project for Medical Science, Yonsei University, Seoul, Republic of Korea.
Won D; Department of Laboratory Medicine, Yonsei University College of Medicine, Severance Hospital, Seoul, Republic of Korea.
Choi JR; Department of Laboratory Medicine, Yonsei University College of Medicine, Severance Hospital, Seoul, Republic of Korea.
Shin S; Dxome Co. Ltd, Seongnam-si, Gyeonggi-do, Republic of Korea.
Lee ST; Department of Laboratory Medicine, Yonsei University College of Medicine, Severance Hospital, Seoul, Republic of Korea.

Clin Genet ; 103(1): 35-44, 2023 01.

Article en En | MEDLINE | ID: mdl-36152294

Asunto(s)

Variaciones en el Número de Copia de ADN; Humanos; Variaciones en el Número de Copia de ADN/genética

Palabras clave

CABANA; CNV visualization; NGS; candidate CNV; confirmatory test; single-base-level normalization

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN Tipo de estudio: Guideline Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article Pais de publicación: Dinamarca

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