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Comparison of GATK and DeepVariant by trio sequencing.
Lin, Yi-Lin; Chang, Pi-Chuan; Hsu, Ching; Hung, Miao-Zi; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lai, FeiPei; Lee, Ni-Chung.
Afiliação
  • Lin YL; Department of Medical Genetics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan.
  • Chang PC; Google Inc., 1600 Amphitheatre Pkwy, Mountain View, CA, 94043, USA.
  • Hsu C; Graduate Institute of Biomedical Electronics and Bioinformatics, National Taiwan University, No. 1, Sec. 4, Roosevelt Rd, Taipei, 10617, Taiwan.
  • Hung MZ; Department of Medical Genetics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan.
  • Chien YH; Department of Medical Genetics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan.
  • Hwu WL; Department of Pediatrics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan.
  • Lai F; Department of Medical Genetics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan.
  • Lee NC; Department of Pediatrics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan.
Sci Rep ; 12(1): 1809, 2022 02 02.
Article em En | MEDLINE | ID: mdl-35110657
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Haplótipos / Software / Biologia Computacional / Sequenciamento de Nucleotídeos em Larga Escala / Sequenciamento do Exoma / Doenças Genéticas Inatas Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Haplótipos / Software / Biologia Computacional / Sequenciamento de Nucleotídeos em Larga Escala / Sequenciamento do Exoma / Doenças Genéticas Inatas Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article