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InferAMP, a python web app for copy number inference from discrete gene-level amplification signals noted in clinical tumor profiling reports

As somatic next-generation sequencing gene panel analysis in advanced cancer patients is becoming more routine, oncologists are frequently presented with reports containing lists of genes with increased copy number. Distinguishing which of these amplified genes, if any, might be driving tumor growth...

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Detalles Bibliográficos
Autor principal: Kenny, Paraic A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777010/
https://www.ncbi.nlm.nih.gov/pubmed/31608148
http://dx.doi.org/10.12688/f1000research.19541.3
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author Kenny, Paraic A.
author_facet Kenny, Paraic A.
author_sort Kenny, Paraic A.
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description As somatic next-generation sequencing gene panel analysis in advanced cancer patients is becoming more routine, oncologists are frequently presented with reports containing lists of genes with increased copy number. Distinguishing which of these amplified genes, if any, might be driving tumor growth and might thus be worth considering targeting can be challenging. One particular issue is the frequent absence of genomic contextual information in clinical reports, making it very challenging to determine which reported genes might be co-amplified and how large any such amplicons might be. We describe a straightforward Python web app, InferAMP, into which healthcare professionals may enter lists of amplified genes from clinical reports. The tool reports (1) the likely size of amplified genomic regions, (2) which reported genes are co-amplified and (3) which other cancer-relevant genes that were not evaluated in the assay may also be co-amplified in the specimen. The tool is accessible for web queries at http://inferamp.org.
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spelling pubmed-67770102019-10-10 InferAMP, a python web app for copy number inference from discrete gene-level amplification signals noted in clinical tumor profiling reports Kenny, Paraic A. F1000Res Software Tool Article As somatic next-generation sequencing gene panel analysis in advanced cancer patients is becoming more routine, oncologists are frequently presented with reports containing lists of genes with increased copy number. Distinguishing which of these amplified genes, if any, might be driving tumor growth and might thus be worth considering targeting can be challenging. One particular issue is the frequent absence of genomic contextual information in clinical reports, making it very challenging to determine which reported genes might be co-amplified and how large any such amplicons might be. We describe a straightforward Python web app, InferAMP, into which healthcare professionals may enter lists of amplified genes from clinical reports. The tool reports (1) the likely size of amplified genomic regions, (2) which reported genes are co-amplified and (3) which other cancer-relevant genes that were not evaluated in the assay may also be co-amplified in the specimen. The tool is accessible for web queries at http://inferamp.org. F1000 Research Limited 2019-09-26 /pmc/articles/PMC6777010/ /pubmed/31608148 http://dx.doi.org/10.12688/f1000research.19541.3 Text en Copyright: © 2019 Kenny PA http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Software Tool Article
Kenny, Paraic A.
InferAMP, a python web app for copy number inference from discrete gene-level amplification signals noted in clinical tumor profiling reports
title InferAMP, a python web app for copy number inference from discrete gene-level amplification signals noted in clinical tumor profiling reports
title_full InferAMP, a python web app for copy number inference from discrete gene-level amplification signals noted in clinical tumor profiling reports
title_fullStr InferAMP, a python web app for copy number inference from discrete gene-level amplification signals noted in clinical tumor profiling reports
title_full_unstemmed InferAMP, a python web app for copy number inference from discrete gene-level amplification signals noted in clinical tumor profiling reports
title_short InferAMP, a python web app for copy number inference from discrete gene-level amplification signals noted in clinical tumor profiling reports
title_sort inferamp, a python web app for copy number inference from discrete gene-level amplification signals noted in clinical tumor profiling reports
topic Software Tool Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777010/
https://www.ncbi.nlm.nih.gov/pubmed/31608148
http://dx.doi.org/10.12688/f1000research.19541.3
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