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Flype: Software for enabling personalized medicine.
Helseth, Donald L; Gulukota, Kamalakar; Miller, Nicholas; Yang, Mathew; Werth, Tom; Sabatini, Linda M; Bouma, Mike; Dunnenberger, Henry M; Wake, Dyson T; Hulick, Peter J; Kaul, Karen L; Khandekar, Janaradan D.
Afiliación
  • Helseth DL; Mark R. Neaman Center for Personalized Medicine, NorthShore University HealthSystem, Evanston, Illinois, USA.
  • Gulukota K; Mark R. Neaman Center for Personalized Medicine, NorthShore University HealthSystem, Evanston, Illinois, USA.
  • Miller N; Mark R. Neaman Center for Personalized Medicine, NorthShore University HealthSystem, Evanston, Illinois, USA.
  • Yang M; Mark R. Neaman Center for Personalized Medicine, NorthShore University HealthSystem, Evanston, Illinois, USA.
  • Werth T; Health Information Technology, NorthShore University HealthSystem, Skokie, Illinois, USA.
  • Sabatini LM; Department of Pathology, NorthShore University HealthSystem, Evanston, Illinois, USA.
  • Bouma M; Department of Pathology, NorthShore University HealthSystem, Evanston, Illinois, USA.
  • Dunnenberger HM; Mark R. Neaman Center for Personalized Medicine, NorthShore University HealthSystem, Evanston, Illinois, USA.
  • Wake DT; Mark R. Neaman Center for Personalized Medicine, NorthShore University HealthSystem, Evanston, Illinois, USA.
  • Hulick PJ; Mark R. Neaman Center for Personalized Medicine, NorthShore University HealthSystem, Evanston, Illinois, USA.
  • Kaul KL; Center for Medical Genetics, NorthShore University HealthSystem, Evanston, Illinois, USA.
  • Khandekar JD; Department of Pathology, NorthShore University HealthSystem, Evanston, Illinois, USA.
Am J Med Genet C Semin Med Genet ; 187(1): 37-47, 2021 03.
Article en En | MEDLINE | ID: mdl-33270363
The advent of next generation DNA sequencing (NGS) has revolutionized clinical medicine by enabling wide-spread testing for genomic anomalies and polymorphisms. With that explosion in testing, however, come several informatics challenges including managing large amounts of data, interpreting the results and providing clinical decision support. We present Flype, a web-based bioinformatics platform built by a small group of bioinformaticians working in a community hospital setting, to address these challenges by allowing us to: (a) securely accept data from a variety of sources, (b) send orders to a variety of destinations, (c) perform secondary analysis and annotation of NGS data, (d) provide a central repository for all genomic variants, (e) assist with tertiary analysis and clinical interpretation, (f) send signed out data to our EHR as both PDF and discrete data elements, (g) allow population frequency analysis and (h) update variant annotation when literature knowledge evolves. We discuss the multiple use cases Flype supports such as (a) in-house NGS tests, (b) in-house pharmacogenomics (PGX) tests, (c) dramatic scale-up of genomic testing using an external lab, (d) consumer genomics using two external partners, and (e) a variety of reporting tools. The source code for Flype is available upon request to the authors.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Programas Informáticos / Medicina de Precisión Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet C Semin Med Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Programas Informáticos / Medicina de Precisión Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet C Semin Med Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos