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.

Afiliação

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 em En | MEDLINE | ID: mdl-36152294

Assuntos

Variações do Número de Cópias de DNA; Humanos; Variações do Número de Cópias de DNA/genética

Palavras-chave

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

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variações do Número de Cópias de DNA Tipo de estudo: Guideline Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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