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DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data.
Kang, Yeeok; Nam, Seong-Hyeuk; Park, Kyung Sun; Kim, Yoonjung; Kim, Jong-Won; Lee, Eunjung; Ko, Jung Min; Lee, Kyung-A; Park, Inho.
Afiliação
  • Kang Y; SD Genomics Co., Ltd., 11F, Seoul Gangnam Post Office, 619 Gaepo-ro, Gangnam-gu, Seoul, 06336, Republic of Korea.
  • Nam SH; Department of Bio and Brain Engineering, KAIST, 291 Daehak-ro, Yuseong-gu, Daejeon, Republic of Korea.
  • Park KS; SD Genomics Co., Ltd., 11F, Seoul Gangnam Post Office, 619 Gaepo-ro, Gangnam-gu, Seoul, 06336, Republic of Korea.
  • Kim Y; SD Genomics Co., Ltd., 11F, Seoul Gangnam Post Office, 619 Gaepo-ro, Gangnam-gu, Seoul, 06336, Republic of Korea.
  • Kim JW; Department of Laboratory Medicine, Yonsei University College of Medicine, 211 Eonjuro, Gangnam-gu, Seoul, 06273, Republic of Korea.
  • Lee E; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
  • Ko JM; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, USA.
  • Lee KA; Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Park I; Department of Laboratory Medicine, Yonsei University College of Medicine, 211 Eonjuro, Gangnam-gu, Seoul, 06273, Republic of Korea. KAL1119@yuhs.ac.
BMC Bioinformatics ; 19(1): 381, 2018 Oct 16.
Article em En | MEDLINE | ID: mdl-30326846
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Éxons / Genômica / Variações do Número de Cópias de DNA / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: BMC Bioinformatics Assunto da revista: INFORMATICA MEDICA Ano de publicação: 2018 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Éxons / Genômica / Variações do Número de Cópias de DNA / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: BMC Bioinformatics Assunto da revista: INFORMATICA MEDICA Ano de publicação: 2018 Tipo de documento: Article