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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2020
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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. |
format | Online Article Text |
id | pubmed-7984435 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
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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