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A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
Oliver, Gavin R; Tang, Xiaojia; Schultz-Rogers, Laura E; Vidal-Folch, Noemi; Jenkinson, W Garrett; Schwab, Tanya L; Gaonkar, Krutika; Cousin, Margot A; Nair, Asha; Basu, Shubham; Chanana, Pritha; Oglesbee, Devin; Klee, Eric W.
Afiliação
  • Oliver GR; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.
  • Tang X; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
  • Schultz-Rogers LE; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.
  • Vidal-Folch N; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
  • Jenkinson WG; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.
  • Schwab TL; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
  • Gaonkar K; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America.
  • Cousin MA; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.
  • Nair A; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
  • Basu S; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, United States of America.
  • Chanana P; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.
  • Oglesbee D; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
  • Klee EW; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.
PLoS One ; 14(10): e0223337, 2019.
Article em En | MEDLINE | ID: mdl-31577830
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Doenças Raras / Proteínas Mutantes Quiméricas / Estudos de Associação Genética / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Doenças Raras / Proteínas Mutantes Quiméricas / Estudos de Associação Genética / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos