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Flype: Software for enabling personalized medicine

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 res...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7984435/
https://www.ncbi.nlm.nih.gov/pubmed/33270363
http://dx.doi.org/10.1002/ajmg.c.31867
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author 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.
author_facet 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.
author_sort Helseth, Donald L.
collection PubMed
description 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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spelling pubmed-79844352021-03-25 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. Am J Med Genet C Semin Med Genet Research Articles 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. John Wiley & Sons, Inc. 2020-12-03 2021-03 /pmc/articles/PMC7984435/ /pubmed/33270363 http://dx.doi.org/10.1002/ajmg.c.31867 Text en © 2020 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Research Articles
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.
Flype: Software for enabling personalized medicine
title Flype: Software for enabling personalized medicine
title_full Flype: Software for enabling personalized medicine
title_fullStr Flype: Software for enabling personalized medicine
title_full_unstemmed Flype: Software for enabling personalized medicine
title_short Flype: Software for enabling personalized medicine
title_sort flype: software for enabling personalized medicine
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7984435/
https://www.ncbi.nlm.nih.gov/pubmed/33270363
http://dx.doi.org/10.1002/ajmg.c.31867
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