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Exome variant discrepancies due to reference-genome differences.
Li, He; Dawood, Moez; Khayat, Michael M; Farek, Jesse R; Jhangiani, Shalini N; Khan, Ziad M; Mitani, Tadahiro; Coban-Akdemir, Zeynep; Lupski, James R; Venner, Eric; Posey, Jennifer E; Sabo, Aniko; Gibbs, Richard A.
Afiliação
  • Li H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Dawood M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA.
  • Khayat MM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Farek JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Khan ZM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Coban-Akdemir Z; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
  • Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Texas Children's Hospital, Houston, TX 77030, USA.
  • Venner E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Sabo A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: agibbs@bcm.edu.
Am J Hum Genet ; 108(7): 1239-1250, 2021 07 01.
Article em En | MEDLINE | ID: mdl-34129815
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Polimorfismo de Nucleotídeo Único / Exoma Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Polimorfismo de Nucleotídeo Único / Exoma Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos